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Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Marked gene: ARV1 as ready
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Gene: arv1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, MIM# 617020
Genetic Epilepsy v0.1724 ARV1 Zornitza Stark Publications for gene: ARV1 were set to
Genetic Epilepsy v0.1723 ARV1 Zornitza Stark Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1 MIM#135900
Genetic Epilepsy v0.1721 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Skeletal Dysplasia_Fetal v0.140 ALG9 Krithika Murali gene: ALG9 was added
gene: ALG9 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 28932688; 25966638; 26453364
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Review for gene: ALG9 was set to GREEN
Added comment: Lethal skeletal dysplasia in utero reported
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.140 ALG3 Krithika Murali gene: ALG3 was added
gene: ALG3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 26126960; 34441372
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id - MIM#26126960
Review for gene: ALG3 was set to GREEN
Added comment: Antenatal presentation with IUGR and short long bones/limbs reported.
Sources: Expert list, Literature
Genetic Epilepsy v0.1719 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Genetic Epilepsy v0.1718 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1717 AMT Zornitza Stark Marked gene: AMT as ready
Genetic Epilepsy v0.1717 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1717 AMT Zornitza Stark Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Genetic Epilepsy v0.1716 AMT Zornitza Stark Publications for gene: AMT were set to
Genetic Epilepsy v0.1715 AMT Zornitza Stark Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809
Genetic Epilepsy v0.1713 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Marked gene: ALPL as ready
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Genetic Epilepsy v0.1711 ALPL Zornitza Stark Publications for gene: ALPL were set to
Genetic Epilepsy v0.1710 ALPL Zornitza Stark Mode of pathogenicity for gene: ALPL was changed from to Other
Genetic Epilepsy v0.1709 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
Genetic Epilepsy v0.1707 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Genetic Epilepsy v0.1706 AKT3 Zornitza Stark Mode of pathogenicity for gene: AKT3 was changed from to Other
Genetic Epilepsy v0.1705 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Marked gene: ADSL as ready
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050
Genetic Epilepsy v0.1703 ADSL Zornitza Stark Publications for gene: ADSL were set to
Genetic Epilepsy v0.1702 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Marked gene: ADAR as ready
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010; Dyschromatosis symmetrica hereditaria, MIM# 127400
Genetic Epilepsy v0.1700 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.402 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Mendeliome v1.402 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Mendeliome v1.402 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Mendeliome v1.402 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Mendeliome v1.401 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Ataxia v0.347 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Ataxia v0.347 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Ataxia v0.347 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Ataxia v0.347 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Ataxia v0.346 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1698 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4994 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Intellectual disability syndromic and non-syndromic v0.4994 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4994 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Intellectual disability syndromic and non-syndromic v0.4993 FRMD5 Zornitza Stark Publications for gene: FRMD5 were set to
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed publications: 36206744
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4991 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Mendeliome v1.400 GIGYF1 Elena Savva Publications for gene: GIGYF1 were set to 33057194; 35917186
Mendeliome v1.400 GIGYF1 Elena Savva Publications for gene: GIGYF1 were set to 33057194
Mendeliome v1.399 GIGYF1 Elena Savva Phenotypes for gene: GIGYF1 were changed from Developmental disorder to Autism, Intellectual disability, GIGYF1-related (MONDO#0001071)
Intellectual disability syndromic and non-syndromic v0.4990 GIGYF1 Elena Savva Phenotypes for gene: GIGYF1 were changed from Developmental disorder to Autism, Intellectual disability, GIGYF1-related (MONDO#0001071)
Intellectual disability syndromic and non-syndromic v0.4990 GIGYF1 Elena Savva Publications for gene: GIGYF1 were set to 33057194
Mendeliome v1.398 GIGYF1 Elena Savva Classified gene: GIGYF1 as Green List (high evidence)
Mendeliome v1.398 GIGYF1 Elena Savva Gene: gigyf1 has been classified as Green List (High Evidence).
Mendeliome v1.397 GIGYF1 Elena Savva reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33057194; Phenotypes: Intellectual disability, GIGYF1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.4989 GIGYF1 Elena Savva Classified gene: GIGYF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4989 GIGYF1 Elena Savva Gene: gigyf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4988 GIGYF1 Elena Savva reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35917186; Phenotypes: Autism, Intellectual disability, GIGYF1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1697 AMPD2 Bryony Thompson Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson commented on gene: AMPD2
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson commented on gene: ATP1A2
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson Deleted their review
Genomic newborn screening: BabyScreen+ v0.541 FH John Christodoulou reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: mitochondrial encephalopathy, failure to thrive, developmental delay, hypotonia, cerebral atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FBP1 John Christodoulou reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fasting hypoglycemia, metabolic acidosis, ketosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 FAH John Christodoulou reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 ETHE1 John Christodoulou reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: petechiae, acrocyanosis, chronic diarrhoea, ID, regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.541 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, MIM#614750 to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Genomic newborn screening: BabyScreen+ v0.540 DPAGT1 Zornitza Stark Tag for review tag was added to gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.540 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Marked gene: DOLK as ready
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Classified gene: DOLK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.539 DOLK Zornitza Stark changed review comment from: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.; to: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.539 DOLK Zornitza Stark reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Marked gene: DLD as ready
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Classified gene: DLD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.538 DLD Zornitza Stark reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Marked gene: TOMM7 as ready
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.397 TOMM7 Zornitza Stark Phenotypes for gene: TOMM7 were changed from growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911 to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related
Mendeliome v1.396 TOMM7 Zornitza Stark reviewed gene: TOMM7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn mitochondrial disorder MONDO:0004069, TOMM7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Classified gene: TOMM7 as Amber List (moderate evidence)
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.840 TOMM7 Zornitza Stark gene: TOMM7 was added
gene: TOMM7 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Phenotypes for gene: TOMM7 were set to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related
Review for gene: TOMM7 was set to AMBER
Added comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4988 HECW2 Zornitza Stark Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4987 HECW2 Zornitza Stark changed review comment from: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)
PMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.
PMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.; to: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)
PMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.
PMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.

Association with bi-allelic variants is AMBER.
Intellectual disability syndromic and non-syndromic v0.4987 HECW2 Zornitza Stark edited their review of gene: HECW2: Added comment: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)
PMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.
PMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.; Changed publications: 29807643, 29395664, 27334371, 27389779, 35753050, 35487419; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Marked gene: FAM20B as ready
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Gene: fam20b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Classified gene: FAM20B as Amber List (moderate evidence)
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Gene: fam20b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.219 FAM20B Zornitza Stark gene: FAM20B was added
gene: FAM20B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802
Phenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426
Review for gene: FAM20B was set to AMBER
Added comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.538 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome to Smith-Lemli-Opitz syndrome, MIM#270400
Genomic newborn screening: BabyScreen+ v0.537 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.537 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.536 DHCR7 Zornitza Stark Tag for review tag was added to gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.536 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.536 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Genomic newborn screening: BabyScreen+ v0.535 DGUOK Zornitza Stark Classified gene: DGUOK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.535 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DGUOK Zornitza Stark Tag for review tag was added to gene: DGUOK.
Genomic newborn screening: BabyScreen+ v0.534 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.217 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Neurotransmitter Defects v1.5 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Mendeliome v1.396 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Marked gene: DDC as ready
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Genomic newborn screening: BabyScreen+ v0.534 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.396 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
Congenital Diarrhoea v1.11 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
Genomic newborn screening: BabyScreen+ v0.534 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.534 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria to D-2-hydroxyglutaric aciduria MIM#600721
Genomic newborn screening: BabyScreen+ v0.533 D2HGDH Zornitza Stark Classified gene: D2HGDH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.533 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.532 D2HGDH Zornitza Stark reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.36 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Mendeliome v1.396 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Marked gene: CYP27B1 as ready
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Gene: cyp27b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.532 CYP27B1 Zornitza Stark Phenotypes for gene: CYP27B1 were changed from Vitamin D-dependent rickets, type I to Vitamin D-dependent rickets, type I MIM#264700
Genomic newborn screening: BabyScreen+ v0.531 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Genomic newborn screening: BabyScreen+ v0.531 CYP27B1 Zornitza Stark reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.396 CYP27A1 Zornitza Stark Tag treatable tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.531 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, MIM# 213700
Genomic newborn screening: BabyScreen+ v0.530 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.530 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
Tag treatable tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP27A1 Zornitza Stark edited their review of gene: CYP27A1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.529 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Mendeliome v1.396 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Differences of Sex Development v0.268 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.5 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Mendeliome v1.396 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Genomic newborn screening: BabyScreen+ v0.529 CYP11B2 Zornitza Stark reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.529 CYP11A1 Zornitza Stark Tag for review tag was added to gene: CYP11A1.
Tag treatable tag was added to gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.529 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v1.5 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Mendeliome v1.396 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Differences of Sex Development v0.268 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.529 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Genomic newborn screening: BabyScreen+ v0.528 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Genomic newborn screening: BabyScreen+ v0.528 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.24 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Red cell disorders v1.18 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Proteinuria v0.212 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Mendeliome v1.396 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Marked gene: CUBN as ready
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Gene: cubn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Genomic newborn screening: BabyScreen+ v0.528 CUBN Zornitza Stark reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Marked gene: CTSD as ready
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.528 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
Genomic newborn screening: BabyScreen+ v0.527 CTSD Zornitza Stark Classified gene: CTSD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.527 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.526 CTSD Zornitza Stark reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Marked gene: CTNS as ready
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.526 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis to Cystinosis, nephropathic MIM#219800
Lysosomal Storage Disorder v1.7 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Mendeliome v1.396 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Hypophosphataemia or rickets v0.36 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Genomic newborn screening: BabyScreen+ v0.525 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Genomic newborn screening: BabyScreen+ v0.525 CTNS Zornitza Stark reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis, nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Intellectual disability syndromic and non-syndromic v0.4987 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Mendeliome v1.396 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.525 CPS1 Zornitza Stark Publications for gene: CPS1 were set to
Genomic newborn screening: BabyScreen+ v0.524 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Genomic newborn screening: BabyScreen+ v0.524 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28281899; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Tag for review tag was added to gene: COQ9.
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Listed as treatable on rx-genes based on expert opinion. For review.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Classified gene: COQ9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.523 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DPAGT1 John Christodoulou reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DOLK John Christodoulou reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DLD John Christodoulou reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuroregresson, lactic acidosis, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.396 TOMM7 Bryony Thompson Marked gene: TOMM7 as ready
Mendeliome v1.396 TOMM7 Bryony Thompson Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.396 TOMM7 Bryony Thompson Classified gene: TOMM7 as Amber List (moderate evidence)
Mendeliome v1.396 TOMM7 Bryony Thompson Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.395 TOMM7 Bryony Thompson gene: TOMM7 was added
gene: TOMM7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Phenotypes for gene: TOMM7 were set to growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911
Review for gene: TOMM7 was set to AMBER
Added comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion.
Sources: Literature
Mendeliome v1.394 HECW2 Bryony Thompson Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.393 HECW2 Bryony Thompson reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35753050, 35487419; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language MONDO:0014995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.393 SEPT4 Bryony Thompson Marked gene: SEPT4 as ready
Mendeliome v1.393 SEPT4 Bryony Thompson Gene: sept4 has been classified as Green List (High Evidence).
Mendeliome v1.393 SEPT4 Bryony Thompson Classified gene: SEPT4 as Green List (high evidence)
Mendeliome v1.393 SEPT4 Bryony Thompson Gene: sept4 has been classified as Green List (High Evidence).
Mendeliome v1.392 SEPT4 Bryony Thompson gene: SEPT4 was added
gene: SEPT4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEPT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPT4 were set to 36135717; 15737931; 15737930
Phenotypes for gene: SEPT4 were set to male infertility MONDO:0005372
Review for gene: SEPT4 was set to GREEN
Added comment: Two unrelated cases with primary male infertility (asthenoteratozoospermia) from consanguineous Chinsese families with 2 difference homozygous stopgain variants (Patient 1: c.721A>T, p.R241* and Patient 2: c.205C>T, p.R69*). Multiple supporting mouse models where the male mice are sterile.
Sources: Literature
Mendeliome v1.391 FAM20B Bryony Thompson Marked gene: FAM20B as ready
Mendeliome v1.391 FAM20B Bryony Thompson Gene: fam20b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.391 FAM20B Bryony Thompson Classified gene: FAM20B as Amber List (moderate evidence)
Mendeliome v1.391 FAM20B Bryony Thompson Gene: fam20b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.390 FAM20B Bryony Thompson gene: FAM20B was added
gene: FAM20B was added to Mendeliome. Sources: Other
Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802
Phenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426
Review for gene: FAM20B was set to AMBER
Added comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities.
Sources: Other
Genomic newborn screening: BabyScreen+ v0.523 DHCR7 John Christodoulou reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DGUOK John Christodoulou reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: liver failure, ophthalmoplegia, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.217 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
Mendeliome v1.389 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Mendeliome v1.389 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Mendeliome v1.389 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Mendeliome v1.389 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Mendeliome v1.388 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.523 DDC John Christodoulou reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hypotonia, oculogyric crises, temperature instability, ID, autonomic dysfunction, sleep disturbance, choreoathetosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 DGAT1 John Christodoulou reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31778854; Phenotypes: intractable diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 D2HGDH John Christodoulou reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: developmental delay, dysmorphism, epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP27B1 John Christodoulou reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP27A1 John Christodoulou reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: diarrhoea, cataracts, xanthomas, progressive ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP17A1 John Christodoulou reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP11B2 John Christodoulou reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary hyperaldosteronism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP11B1 John Christodoulou reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27928728; Phenotypes: congenital adrenal hyperplasia, aldosteronism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CYP11A1 John Christodoulou reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25096886; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CUBN John Christodoulou commented on gene: CUBN: defect of intestinal vitamin B12 absorption; treatable with pharmacological doses of parenteral vitamin B12
Genomic newborn screening: BabyScreen+ v0.523 CUBN John Christodoulou reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: megaloblastic anaemia, sensorimotor neuropathy, failure to thrive, cognitive impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CTSD John Christodoulou reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CTNS John Christodoulou reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi tubulopathy, photophobia, chronic renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 CPS1 John Christodoulou reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperammonaemia and subsequent recurrent episodes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.523 COQ9 John Christodoulou reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Marked gene: DPH5 as ready
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.7 VPS33A Bryony Thompson Classified gene: VPS33A as Green List (high evidence)
Lysosomal Storage Disorder v1.7 VPS33A Bryony Thompson Gene: vps33a has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.6 VPS33A Bryony Thompson reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28013294, 27547915, 31936524, 36153662; Phenotypes: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.387 VPS33A Bryony Thompson Publications for gene: VPS33A were set to 28013294; 27547915
Mendeliome v1.386 VPS33A Bryony Thompson Classified gene: VPS33A as Green List (high evidence)
Mendeliome v1.386 VPS33A Bryony Thompson Gene: vps33a has been classified as Green List (High Evidence).
Mendeliome v1.385 VPS33A Bryony Thompson changed review comment from: PMID: 28013294 - 13 cases homozygous for VPS33A c.1492C>T p.(Arg498Trp) from non-consanguineous Yakuti families with a Mucopolysaccharidoses-like disease (coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, intellectual disability, and excess secretion of urinary glycosaminoglycans). Lysosomal over-acidification and heparan sulphate accumulation were detected in patient-derived and VPS33A-depleted HeLa cells.
PMID: 27547915 - 2 affected siblings homozygous for VPS33A p.(Arg498Trp) from a consanguineous Turkish family
PMID: 31936524 - 1 homozygous case from a non-consanguineous Yakuti family
PMID: 36153662 - an attenuated juvenile case with a new homozygous missense variant VPS33A c.599G>C p.(Arg200Pro). Urinary glycosaminoglycan analysis revealed increased heparan, dermatan sulphates, and hyaluronic acid and decreased abundance of VPS33A in patient-derived fibroblasts; to: Now two missense variants reported with disease in at least 15 probands/families
PMID: 28013294 - 13 cases homozygous for VPS33A c.1492C>T p.(Arg498Trp) from non-consanguineous Yakuti families with a Mucopolysaccharidoses-like disease (coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, intellectual disability, and excess secretion of urinary glycosaminoglycans). Lysosomal over-acidification and heparan sulphate accumulation were detected in patient-derived and VPS33A-depleted HeLa cells.
PMID: 27547915 - 2 affected siblings homozygous for VPS33A p.(Arg498Trp) from a consanguineous Turkish family
PMID: 31936524 - 1 homozygous case from a non-consanguineous Yakuti family
PMID: 36153662 - an attenuated juvenile case with a new homozygous missense variant VPS33A c.599G>C p.(Arg200Pro). Urinary glycosaminoglycan analysis revealed increased heparan, dermatan sulphates, and hyaluronic acid and decreased abundance of VPS33A in patient-derived fibroblasts
Mendeliome v1.385 DPH5 Zornitza Stark Marked gene: DPH5 as ready
Mendeliome v1.385 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Mendeliome v1.385 DPH5 Zornitza Stark Classified gene: DPH5 as Green List (high evidence)
Mendeliome v1.385 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Mendeliome v1.384 DPH5 Zornitza Stark gene: DPH5 was added
gene: DPH5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH5 were set to 35482014
Phenotypes for gene: DPH5 were set to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, MIM# 620070
Review for gene: DPH5 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported with severe ID, feeding difficulties, dysmorphic features and congenital anomalies, though there was no consistent pattern to these.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark edited their review of gene: DPH5: Changed publications: 35482014
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Classified gene: DPH5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4986 DPH5 Zornitza Stark gene: DPH5 was added
gene: DPH5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPH5 were set to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070
Review for gene: DPH5 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported with severe ID, feeding difficulties, dysmorphic features and congenital anomalies, though there was no consistent pattern to these.
Sources: Literature
Mendeliome v1.383 VPS33A Bryony Thompson reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28013294, 27547915, 31936524, 36153662; Phenotypes: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.136 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Hereditary Neuropathy v0.135 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Mendeliome v1.383 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Intermediate CMT to Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Mendeliome v1.382 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Andermann syndrome, Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Intellectual disability syndromic and non-syndromic v0.4985 ADGRL1 Zornitza Stark Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065
Intellectual disability syndromic and non-syndromic v0.4984 ADGRL1 Zornitza Stark Mode of inheritance for gene: ADGRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4983 ADGRL1 Zornitza Stark reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1695 ADGRL1 Zornitza Stark Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065
Genetic Epilepsy v0.1694 ADGRL1 Zornitza Stark reviewed gene: ADGRL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.382 ADGRL1 Zornitza Stark Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065
Mendeliome v1.381 ADGRL1 Zornitza Stark reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.523 SCN3A Zornitza Stark Tag for review tag was added to gene: SCN3A.
Tag treatable tag was added to gene: SCN3A.
Genomic newborn screening: BabyScreen+ v0.523 SCN2A Zornitza Stark Tag for review tag was added to gene: SCN2A.
Tag treatable tag was added to gene: SCN2A.
Genomic newborn screening: BabyScreen+ v0.523 SCN1A Zornitza Stark Tag for review tag was added to gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.523 SCN1A Zornitza Stark Tag treatable tag was added to gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.523 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Genomic newborn screening: BabyScreen+ v0.523 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.523 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from Arthrogryposis renal dysfunction cholestasis syndrome to Arthrogryposis, renal dysfunction, and cholestasis MIM#208085
Genomic newborn screening: BabyScreen+ v0.522 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Genomic newborn screening: BabyScreen+ v0.521 VPS33B Zornitza Stark Classified gene: VPS33B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.521 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
Phagocyte Defects v1.9 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Mendeliome v1.381 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Bone Marrow Failure v1.22 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.520 VPS45 Zornitza Stark Publications for gene: VPS45 were set to
Genomic newborn screening: BabyScreen+ v0.519 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Marked gene: WAS as ready
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.519 WAS Zornitza Stark Publications for gene: WAS were set to
Genomic newborn screening: BabyScreen+ v0.518 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Genomic newborn screening: BabyScreen+ v0.518 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.518 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317
Genomic newborn screening: BabyScreen+ v0.517 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Genomic newborn screening: BabyScreen+ v0.516 WDR62 Zornitza Stark Classified gene: WDR62 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.516 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.515 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome to Wolfram syndrome MIM#222300
Genomic newborn screening: BabyScreen+ v0.514 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Genomic newborn screening: BabyScreen+ v0.513 WFS1 Zornitza Stark Classified gene: WFS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.513 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark Marked gene: WHRN as ready
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WHRN Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Classified gene: WRAP53 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Marked gene: WRN as ready
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.511 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome to Werner syndrome MIM#277700
Genomic newborn screening: BabyScreen+ v0.510 WRN Zornitza Stark Publications for gene: WRN were set to
Genomic newborn screening: BabyScreen+ v0.509 WRN Zornitza Stark Classified gene: WRN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.509 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Marked gene: XIAP as ready
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Mendeliome v1.381 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Marked gene: XIAP as ready
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.508 XIAP Zornitza Stark Publications for gene: XIAP were set to
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Marked gene: SCN3A as ready
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Gene: scn3a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.507 SCN3A Seb Lunke Phenotypes for gene: SCN3A were changed from Developmental and epileptic encephalopathy 62, MIM# 617938 to Epileptic encephalopathy, early infantile, 62, MIM# 617938
Genomic newborn screening: BabyScreen+ v0.506 SCN3A Seb Lunke Publications for gene: SCN3A were set to
Genomic newborn screening: BabyScreen+ v0.505 SCN3A Seb Lunke reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34081427; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke Marked gene: SCN2A as ready
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke Gene: scn2a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

Non-genetic confirmatory test: not available; to: Established gene-disease association.

Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

Non-genetic confirmatory test: not available
Genomic newborn screening: BabyScreen+ v0.505 SCN2A Seb Lunke reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Marked gene: SCN1A as ready
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Gene: scn1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.505 SCN1A Seb Lunke Phenotypes for gene: SCN1A were changed from Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
Genomic newborn screening: BabyScreen+ v0.504 SCN1A Seb Lunke Publications for gene: SCN1A were set to
Genomic newborn screening: BabyScreen+ v0.503 SCN1A Seb Lunke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301494; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.503 VPS33B Lilian Downie reviewed gene: VPS33B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15052268, 15052268, 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 VPS45 Lilian Downie reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30294941, PMID: 32037586, PMID: 23738510; Phenotypes: Neutropenia, severe congenital, 5, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WAS Lilian Downie reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301357; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.503 WDR62 Lilian Downie reviewed gene: WDR62: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35188728; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WFS1 Lilian Downie reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301750, PMID: 11317350, PMID: 20738327, PMID: 31337416; Phenotypes: Wolfram syndrome MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WHRN Lilian Downie commented on gene: WHRN: Definitive gene disease association Usher, moderate evidence it can also cause a non syndromic hearing loss phenotype.
Congenital hearing impairment, childhood onset visual loss
Treatment supportive, clinical trials for retinitis pigmentosa

*I think we should keep hearing loss genes on as it's part of traditional newborn screening*
Genomic newborn screening: BabyScreen+ v0.503 WHRN Lilian Downie reviewed gene: WHRN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:26338283, PMID:22147658, PMID:17171570, PMID:21738389; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WRAP53 Lilian Downie reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:21205863, 19250907, 20301779; Phenotypes: dyskeratosis congenita MIM#613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 WRN Lilian Downie reviewed gene: WRN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: Werner syndrome MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.503 XIAP Lilian Downie reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v1.17 Zornitza Stark List of related panels changed from to Nystagmus HP:0000639
Congenital Myasthenia v1.10 Zornitza Stark List of related panels changed from to Fatiguable weakness HP:0003473;Hypotonia HP:0001252
Oligodontia v0.28 Zornitza Stark List of related panels changed from to Abnormal number of teeth HP:0006483
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Oligodontia v0.27 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Oligodontia v0.27 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Oligodontia v0.27 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300
Oligodontia v0.26 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Oligodontia v0.25 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Oligodontia v0.25 EDARADD Zornitza Stark Marked gene: EDARADD as ready
Oligodontia v0.25 EDARADD Zornitza Stark Gene: edaradd has been classified as Green List (High Evidence).
Oligodontia v0.25 EDARADD Zornitza Stark Phenotypes for gene: EDARADD were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Oligodontia v0.24 EDARADD Zornitza Stark Publications for gene: EDARADD were set to
Oligodontia v0.23 EDARADD Zornitza Stark Mode of inheritance for gene: EDARADD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Oligodontia v0.22 EDAR Zornitza Stark Marked gene: EDAR as ready
Oligodontia v0.22 EDAR Zornitza Stark Gene: edar has been classified as Green List (High Evidence).
Oligodontia v0.22 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Oligodontia v0.21 EDAR Zornitza Stark Publications for gene: EDAR were set to
Oligodontia v0.20 EDAR Zornitza Stark Mode of inheritance for gene: EDAR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Oligodontia v0.19 EDA Zornitza Stark Marked gene: EDA as ready
Oligodontia v0.19 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Oligodontia v0.19 EDA Zornitza Stark Phenotypes for gene: EDA were changed from to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Oligodontia v0.18 EDA Zornitza Stark Publications for gene: EDA were set to
Oligodontia v0.17 EDA Zornitza Stark Mode of inheritance for gene: EDA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hypothyroidism v0.35 Zornitza Stark List of related panels changed from to Hypothyroidism HP:0000821
Congenital Heart Defect v0.267 Zornitza Stark List of related panels changed from to Abnormal heart morphology HP:0001627
Congenital Diarrhoea v1.11 Zornitza Stark List of related panels changed from to Diarrhea HP:0002014
Congenital diaphragmatic hernia v1.11 Zornitza Stark List of related panels changed from to Congenital diaphragmatic hernia HP:0000776
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.116 Zornitza Stark List of related panels changed from to Abnormality of the urinary system HP:0000079
Cobblestone Malformations v1.1 Zornitza Stark List of related panels changed from to Abnormal cortical gyration HP:0002536
Clefting disorders v0.185 Zornitza Stark List of related panels changed from to Oral cleft HP:0000202
Ciliary Dyskinesia v1.24 Zornitza Stark List of related panels changed from Ciliary dyskinesia HP:0012265 to Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205
Ciliary Dyskinesia v1.23 Zornitza Stark List of related panels changed from to Ciliary dyskinesia HP:0012265
Chromosome Breakage Disorders v1.11 Zornitza Stark List of related panels changed from to Chromosome breakage HP:0040012
Cholestasis v0.237 Zornitza Stark List of related panels changed from to Cholestasis HP:0001396
Choanal atresia v1.3 Zornitza Stark List of related panels changed from to Choanal atresia HP:0000453
Cerebral vascular malformations v0.32 Zornitza Stark List of related panels changed from to Abnormal cerebral vascular morphology HP:0100659
Cerebral Palsy v1.36 Zornitza Stark List of related panels changed from to Cerebral palsy HP:0100021
Cerebellar and Pontocerebellar Hypoplasia v1.57 Zornitza Stark List of related panels changed from to Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879
Central Hypoventilation v1.5 Zornitza Stark List of related panels changed from to Central hypoventilation HP:0007110
Catecholaminergic Polymorphic Ventricular Tachycardia v0.33 Zornitza Stark List of related panels changed from to Polymorphic ventricular tachycardia HP:0031677
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Marked gene: GAA as ready
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.503 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM#232300 to Glycogen storage disease II, Pompe disease, MIM# 232300
Genomic newborn screening: BabyScreen+ v0.502 GAA Zornitza Stark Tag treatable tag was added to gene: GAA.
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.502 SBDS Zornitza Stark Tag treatable tag was added to gene: SBDS.
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Marked gene: ACAN as ready
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Classified gene: ACAN as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.502 SAMHD1 Zornitza Stark Tag treatable tag was added to gene: SAMHD1.
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.502 GAA Alison Yeung changed review comment from: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills; to: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills

Non-molecular confirmatory test: enzyme activity analysis
Genomic newborn screening: BabyScreen+ v0.502 G6PD Zornitza Stark Marked gene: G6PD as ready
Genomic newborn screening: BabyScreen+ v0.502 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.502 GAA Alison Yeung reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II, Pompe disease, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal Dysplasia_Fetal v0.137 ADAMTSL2 Krithika Murali gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 20301776; 21415077
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1-MIM#231050
Review for gene: ADAMTSL2 was set to GREEN
Added comment: Disproportionate growth restriction affecting length has been detected in the antenatal period

--
Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Marked gene: SCN11A as ready
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.502 SCN11A Seb Lunke Phenotypes for gene: SCN11A were changed from Episodic pain syndrome to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
Genomic newborn screening: BabyScreen+ v0.501 SCN11A Seb Lunke Classified gene: SCN11A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.501 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.500 SCN11A Seb Lunke reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Marked gene: SBDS as ready
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Gene: sbds has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.500 SBDS Seb Lunke Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400
Genomic newborn screening: BabyScreen+ v0.499 SBDS Seb Lunke Publications for gene: SBDS were set to
Genomic newborn screening: BabyScreen+ v0.498 SBDS Seb Lunke reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22191555, 20301722; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.137 ACAN Krithika Murali gene: ACAN was added
gene: ACAN was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113; 27870580; 19110214; 30124491; 28331218; 20137779
Phenotypes for gene: ACAN were set to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800
Review for gene: ACAN was set to GREEN
Added comment: Spondyloepimetaphyseal dysplasia, aggrecan type is biallelic and associated with more severe skeletal phenotype likely to be detectable in fetal period.

Patients with SSOAD (monoallelic) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Patients born with low-normal birth length. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Marked gene: BLNK as ready
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Gene: blnk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.498 BLNK Zornitza Stark Publications for gene: BLNK were set to
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Marked gene: C5 as ready
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Gene: c5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark Tag treatable tag was added to gene: C5.
Genomic newborn screening: BabyScreen+ v0.497 C5 Zornitza Stark reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Marked gene: SAMHD1 as ready
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Gene: samhd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.497 SAMHD1 Seb Lunke Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 5, MIM# 612952
Genomic newborn screening: BabyScreen+ v0.496 SAMHD1 Seb Lunke Publications for gene: SAMHD1 were set to
Genomic newborn screening: BabyScreen+ v0.495 SAMHD1 Seb Lunke reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.137 ACP5 Krithika Murali gene: ACP5 was added
gene: ACP5 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 26854080; 26951490; 21217755; 26789720; 2363422; 21217752
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Review for gene: ACP5 was set to GREEN
Added comment: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency.

Multiple reports in literature. Well established disease gene.

Skeletal findings likely to be seen in fetal period
Sources: Literature, Expert list
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Marked gene: BSND as ready
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.495 BSND Zornitza Stark Phenotypes for gene: BSND were changed from Bartter syndrome with sensorineural deafness to Bartter syndrome, type 4a, MIM# 602522
Genomic newborn screening: BabyScreen+ v0.494 BSND Zornitza Stark Tag treatable tag was added to gene: BSND.
Genomic newborn screening: BabyScreen+ v0.494 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Marked gene: SALL1 as ready
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.494 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Genomic newborn screening: BabyScreen+ v0.494 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.494 SALL1 Seb Lunke Phenotypes for gene: SALL1 were changed from Townes-Brocks syndrome to Townes-Brocks syndrome 1, MIM#107480
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark Tag for review tag was added to gene: BSCL2.
Tag treatable tag was added to gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.493 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.493 SALL1 Seb Lunke Classified gene: SALL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.493 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.492 SALL1 Seb Lunke reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Marked gene: SACS as ready
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.492 SACS Seb Lunke Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Genomic newborn screening: BabyScreen+ v0.491 SACS Seb Lunke Classified gene: SACS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.491 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.490 SACS Seb Lunke reviewed gene: SACS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type MIM#270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.490 G6PD Alison Yeung reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4983 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Intellectual disability syndromic and non-syndromic v0.4983 BRIP1 Zornitza Stark Gene: brip1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4983 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Intellectual disability syndromic and non-syndromic v0.4982 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4981 BRIP1 Zornitza Stark Classified gene: BRIP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4981 BRIP1 Zornitza Stark Gene: brip1 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v1.4 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Microcephaly v1.161 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Mendeliome v1.381 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Chromosome Breakage Disorders v1.10 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Bone Marrow Failure v1.22 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Genomic newborn screening: BabyScreen+ v0.490 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.490 G6PC3 Alison Yeung reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Classified gene: BMPR1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.489 BMPR1A Zornitza Stark Tag for review tag was added to gene: BMPR1A.
Genomic newborn screening: BabyScreen+ v0.489 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Marked gene: BLM as ready
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.489 BLM Zornitza Stark Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, MIM# 210900
Genomic newborn screening: BabyScreen+ v0.488 BLM Zornitza Stark Classified gene: BLM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.488 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.487 BLM Zornitza Stark reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.487 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C to Usher syndrome, type 2C, MIM# 605472
Genomic newborn screening: BabyScreen+ v0.486 ADGRV1 Zornitza Stark reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.486 ACADVL Zornitza Stark Publications for gene: ACADVL were set to
Stroke v1.7 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Cardiomyopathy_Paediatric v0.134 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Rhabdomyolysis and Metabolic Myopathy v0.90 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Intellectual disability syndromic and non-syndromic v0.4980 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Mitochondrial disease v0.839 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Mendeliome v1.381 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Fatty Acid Oxidation Defects v1.8 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Genomic newborn screening: BabyScreen+ v0.485 G6PC Alison Yeung reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.485 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.24 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.381 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.381 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.485 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome; Deafness, autosomal dominant to Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717
Genomic newborn screening: BabyScreen+ v0.484 ACTG1 Zornitza Stark Classified gene: ACTG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.484 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.483 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Marked gene: ACAD8 as ready
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.483 ACAD8 Zornitza Stark Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Genomic newborn screening: BabyScreen+ v0.482 ACAD8 Zornitza Stark Classified gene: ACAD8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.482 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.481 ACAD8 Zornitza Stark reviewed gene: ACAD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Isobutyryl-CoA dehydrogenase deficiency MIM#611283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.380 ACAD8 Zornitza Stark Phenotypes for gene: ACAD8 were changed from to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Polycystic liver disease v1.5 ALG5 Zornitza Stark Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Polycystic kidney disease 7, MIM# 620056; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
Polycystic liver disease v1.4 ALG5 Zornitza Stark reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.53 ALG5 Zornitza Stark reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.53 ALG5 Zornitza Stark Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Polycystic kidney disease 7, MIM# 620056; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
Mendeliome v1.379 ALG5 Zornitza Stark Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related to Polycystic kidney disease 7, MIM# 620056
Mendeliome v1.378 ALG5 Zornitza Stark reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1694 GABBR1 Zornitza Stark Classified gene: GABBR1 as Red List (low evidence)
Genetic Epilepsy v0.1694 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1693 GABBR1 Karina Sandoval edited their review of gene: GABBR1: Added comment: GABBR1 should be Red for Genetic Epilepsy panel as only 1 patient out of the 4 presented with seizures.

In addition PMID:36103875 stated it was surprising another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.; Changed rating: RED
Genetic Epilepsy v0.1693 GABBR1 Karina Sandoval changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.

4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. ; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.

Functional analyses reveal that all four variants produce dysfunctional receptors, supporting that these de novo variants are pathogenic.

4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.
Genetic Epilepsy v0.1693 GABBR1 Karina Sandoval changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.

4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.
Ciliopathies v1.36 SCNM1 Zornitza Stark Marked gene: SCNM1 as ready
Ciliopathies v1.36 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4980 GABRG1 Zornitza Stark Phenotypes for gene: GABRG1 were changed from to Developmental and epileptic encephalopathy MONDO:0100062
Intellectual disability syndromic and non-syndromic v0.4979 GABRG1 Zornitza Stark Publications for gene: GABRG1 were set to
Intellectual disability syndromic and non-syndromic v0.4978 GABRG1 Zornitza Stark Mode of inheritance for gene: GABRG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Marked gene: OSMR as ready
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.481 OSMR Zornitza Stark Phenotypes for gene: OSMR were changed from Amyloidosis, primary cutaneous to Amyloidosis, primary localized cutaneous, 1 - MIM#105250
Genomic newborn screening: BabyScreen+ v0.480 OSMR Zornitza Stark Classified gene: OSMR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.480 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.479 OSMR Zornitza Stark reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.378 SLC32A1 Zornitza Stark Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus to Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related
Mendeliome v1.377 SLC32A1 Zornitza Stark Publications for gene: SLC32A1 were set to 34038384
Genetic Epilepsy v0.1693 SLC32A1 Zornitza Stark Publications for gene: SLC32A1 were set to 34038384; 36073542
Genetic Epilepsy v0.1692 SLC32A1 Zornitza Stark Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus to Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related
Genetic Epilepsy v0.1691 SLC32A1 Zornitza Stark Publications for gene: SLC32A1 were set to 34038384
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.479 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 1, MIM# 224690
Genomic newborn screening: BabyScreen+ v0.478 ORC1 Zornitza Stark Classified gene: ORC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.478 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.477 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.477 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Genomic newborn screening: BabyScreen+ v0.477 OPA1 Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.477 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy 1 to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250
Genomic newborn screening: BabyScreen+ v0.476 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.475 OPA1 Zornitza Stark Classified gene: OPA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.475 OPA1 Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.474 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896, Behr syndrome MIM#210000, AR, Optic atrophy 1, MIM#165500, Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.474 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Genomic newborn screening: BabyScreen+ v0.474 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.474 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Oral-facial-digital syndrome to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Genomic newborn screening: BabyScreen+ v0.473 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.473 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.472 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.472 OCRL Zornitza Stark Marked gene: OCRL as ready
Genomic newborn screening: BabyScreen+ v0.472 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.472 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from Lowe oculocerebrorenal syndrome to Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000
Genomic newborn screening: BabyScreen+ v0.471 OCRL Zornitza Stark Classified gene: OCRL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.471 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.470 OCRL Zornitza Stark reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease 2, MIM# 300555, Lowe syndrome , MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.470 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Genomic newborn screening: BabyScreen+ v0.470 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.470 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
Genomic newborn screening: BabyScreen+ v0.469 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.468 OCA2 Zornitza Stark Classified gene: OCA2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.468 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.467 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, brown oculocutaneous, MIM# 203200, Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.467 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
Genomic newborn screening: BabyScreen+ v0.467 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.467 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3-M syndrome to 3-M syndrome 2, MIM #612921
Genomic newborn screening: BabyScreen+ v0.466 OBSL1 Zornitza Stark Classified gene: OBSL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.466 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.465 OBSL1 Zornitza Stark reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Classified gene: NTRK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.465 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.464 NTRK1 Zornitza Stark reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.464 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Genomic newborn screening: BabyScreen+ v0.464 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.464 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from Sotos syndrome to Sotos syndrome 1, MIM# 117550
Genomic newborn screening: BabyScreen+ v0.463 NSD1 Zornitza Stark Classified gene: NSD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.463 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.462 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.462 NR5A1 Zornitza Stark Marked gene: NR5A1 as ready
Genomic newborn screening: BabyScreen+ v0.462 NR5A1 Zornitza Stark Gene: nr5a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.462 NR5A1 Zornitza Stark Phenotypes for gene: NR5A1 were changed from 46, XX sex reversal 4, MIM# 617480; 46XY sex reversal 3, MIM# 612965 to Adrenocortical insufficiency, (MIM#612964)
Genomic newborn screening: BabyScreen+ v0.461 NR5A1 Zornitza Stark Tag treatable tag was added to gene: NR5A1.
Genomic newborn screening: BabyScreen+ v0.461 NR5A1 Zornitza Stark reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency, (MIM#612964); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.461 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
Genomic newborn screening: BabyScreen+ v0.461 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.461 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.461 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Genomic newborn screening: BabyScreen+ v0.461 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.461 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from Congenital adrenal hypoplasia to Adrenal hypoplasia, congenital (MIM# 300200)
Genomic newborn screening: BabyScreen+ v0.460 NR0B1 Zornitza Stark Tag treatable tag was added to gene: NR0B1.
Genomic newborn screening: BabyScreen+ v0.460 NR0B1 Zornitza Stark reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hypoplasia, congenital (MIM# 300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.460 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Genomic newborn screening: BabyScreen+ v0.460 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.460 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from Congenital nephrotic syndrome, Finnish type to Nephrotic syndrome, type 1, MIM# 256300
Genomic newborn screening: BabyScreen+ v0.459 NPHS1 Zornitza Stark Classified gene: NPHS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.459 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.458 NPHS1 Zornitza Stark reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.458 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from Nephronophthisis to Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996
Genomic newborn screening: BabyScreen+ v0.457 NPHP4 Zornitza Stark Classified gene: NPHP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.457 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.456 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.456 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Genomic newborn screening: BabyScreen+ v0.456 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.456 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Genomic newborn screening: BabyScreen+ v0.455 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.455 NPHP3 Zornitza Stark Classified gene: NPHP3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.455 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
Mendeliome v1.376 SCNM1 Elena Savva Marked gene: SCNM1 as ready
Mendeliome v1.376 SCNM1 Elena Savva Gene: scnm1 has been classified as Green List (High Evidence).
Mendeliome v1.376 SCNM1 Elena Savva Classified gene: SCNM1 as Green List (high evidence)
Mendeliome v1.376 SCNM1 Elena Savva Gene: scnm1 has been classified as Green List (High Evidence).
Mendeliome v1.375 SCNM1 Elena Savva gene: SCNM1 was added
gene: SCNM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to PMID: 36084634
Phenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous
- the missense variant was shown to have a splice outcome
Sources: Literature
Ataxia v0.345 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Ataxia v0.345 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Ataxia v0.345 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Ataxia v0.345 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.839 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.839 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.838 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.838 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.837 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.837 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mendeliome v1.374 DEPDC5 Dean Phelan reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.75 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Fetal anomalies v1.75 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Fetal anomalies v1.75 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Fetal anomalies v1.75 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Microcephaly v1.161 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Microcephaly v1.161 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Microcephaly v1.161 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Microcephaly v1.161 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4976 DEPDC5 Dean Phelan reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.357 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Arthrogryposis v0.357 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Ciliopathies v1.36 SCNM1 Zornitza Stark Classified gene: SCNM1 as Green List (high evidence)
Ciliopathies v1.36 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Arthrogryposis v0.357 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Arthrogryposis v0.357 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1689 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Genetic Epilepsy v0.1689 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Arthrogryposis v0.356 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Arthrogryposis v0.356 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Mendeliome v1.374 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Mendeliome v1.374 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mendeliome v1.374 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Marked gene: DEPDC5 as ready
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Classified gene: DEPDC5 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Mendeliome v1.374 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mendeliome v1.374 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.216 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Skeletal dysplasia v0.216 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.178 DEPDC5 Dean Phelan gene: DEPDC5 was added
gene: DEPDC5 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: DEPDC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEPDC5 were set to PMID: 36067010; 32848577
Phenotypes for gene: DEPDC5 were set to Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Mode of pathogenicity for gene: DEPDC5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: DEPDC5 was set to GREEN
Added comment: PMID: 36067010 - Homozygous missense variants were identified in five families (3x Irish Traveller families with same variant; and 1x Tunisian and 1x Lebanese families with the same variant; ie. 2 different variants only) in 9 children with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. Disease mechanism is LOF as DEPDC5 is a repressor/inhibitor within the mTOR pathway.

PMID: 32848577 - A different homozygous missense variant was identified in a child with focal cortical dysplasia and childhood onset epilepsy.
Sources: Literature
Genetic Epilepsy v0.1688 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Genetic Epilepsy v0.1688 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Mendeliome v1.373 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Mendeliome v1.373 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.115 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.115 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1687 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v1.10 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mendeliome v1.372 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Marked gene: GABBR1 as ready
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1686 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1 MIM#604364 to Epilepsy, familial focal, with variable foci 1 MIM#604364; Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Genetic Epilepsy v0.1685 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1684 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1684 GABBR1 Karina Sandoval reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36103875; Phenotypes: Neurodevelopmental disorder, GABBR1-related, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.344 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1684 GABBR1 Karina Sandoval gene: GABBR1 was added
gene: GABBR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR1 were set to PMID:36103875
Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092
Mendeliome v1.372 GABRG1 Seb Lunke Marked gene: GABRG1 as ready
Mendeliome v1.372 GABRG1 Seb Lunke Gene: gabrg1 has been classified as Red List (Low Evidence).
Mendeliome v1.372 GABBR1 Zornitza Stark Marked gene: GABBR1 as ready
Mendeliome v1.372 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Ciliopathies v1.35 SCNM1 Elena Savva gene: SCNM1 was added
gene: SCNM1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to PMID: 36084634
Phenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous
- the missense variant was shown to have a splice outcome
Sources: Literature
Mendeliome v1.372 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Mendeliome v1.372 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.148 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Mendeliome v1.371 GABBR1 Zornitza Stark gene: GABBR1 was added
gene: GABBR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092
Review for gene: GABBR1 was set to GREEN
Added comment: Four individuals with de novo variants in this gene and varying severity of DD/ID, seizures and hypotonia.
Sources: Literature
Mendeliome v1.371 GABRG1 Seb Lunke Classified gene: GABRG1 as Red List (low evidence)
Mendeliome v1.371 GABRG1 Seb Lunke Gene: gabrg1 has been classified as Red List (Low Evidence).
Mendeliome v1.370 DUT Seb Lunke Marked gene: DUT as ready
Mendeliome v1.370 DUT Seb Lunke Gene: dut has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Marked gene: GABBR1 as ready
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Mendeliome v1.370 DUT Seb Lunke Classified gene: DUT as Green List (high evidence)
Mendeliome v1.370 DUT Seb Lunke Gene: dut has been classified as Green List (High Evidence).
Optic Atrophy v1.9 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4975 GABBR1 Zornitza Stark gene: GABBR1 was added
gene: GABBR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092
Review for gene: GABBR1 was set to GREEN
Added comment: Four individuals with de novo variants in this gene and varying severity of DD/ID, seizures and hypotonia.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4974 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1684 DEPDC5 Dean Phelan reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: polymicrogyria, macrocephaly, epilepsy, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Mendeliome v1.369 DUT Daniel Flanagan gene: DUT was added
gene: DUT was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Review for gene: DUT was set to GREEN
Added comment: Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.

p.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD.
Sources: Expert list
Mendeliome v1.369 DACT1 Paul De Fazio reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.114 DACT1 Paul De Fazio reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: None; Current diagnostic: yes
Genetic Epilepsy v0.1684 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Genetic Epilepsy v0.1684 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1683 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Genetic Epilepsy v0.1683 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Fetal anomalies v1.74 MED11 Ain Roesley Marked gene: MED11 as ready
Fetal anomalies v1.74 MED11 Ain Roesley Gene: med11 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1682 MED11 Ain Roesley Marked gene: MED11 as ready
Genetic Epilepsy v0.1682 MED11 Ain Roesley Gene: med11 has been classified as Red List (Low Evidence).
Mendeliome v1.369 CENPP Seb Lunke Marked gene: CENPP as ready
Mendeliome v1.369 CENPP Seb Lunke Gene: cenpp has been classified as Red List (Low Evidence).
Fetal anomalies v1.74 MED11 Ain Roesley Classified gene: MED11 as Amber List (moderate evidence)
Fetal anomalies v1.74 MED11 Ain Roesley Gene: med11 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.369 CENPP Seb Lunke changed review comment from: Sources: Literature; to: Single family with dominant SNHL segregated through 5 family members. Truncating variant in NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter). Note: misannotated as nonsense variant in paper.
Sources: Literature
Fetal anomalies v1.73 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to AMBER
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Mendeliome v1.369 CENPP Seb Lunke gene: CENPP was added
gene: CENPP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CENPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CENPP were set to 36071244
Phenotypes for gene: CENPP were set to autosomal dominant nonsyndromic hearing loss; MONDO:0019587
Review for gene: CENPP was set to RED
Added comment: Sources: Literature
Genetic Epilepsy v0.1682 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Bone Marrow Failure v1.22 DUT Alison Yeung Marked gene: DUT as ready
Bone Marrow Failure v1.22 DUT Alison Yeung Gene: dut has been classified as Green List (High Evidence).
Bone Marrow Failure v1.22 DUT Alison Yeung Classified gene: DUT as Green List (high evidence)
Bone Marrow Failure v1.22 DUT Alison Yeung Gene: dut has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.216 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.216 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Arthrogryposis v0.355 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Arthrogryposis v0.355 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Arthrogryposis v0.355 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Arthrogryposis v0.355 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Marked gene: TAB2 as ready
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Arthrogryposis v0.354 MED11 Ain Roesley Marked gene: MED11 as ready
Arthrogryposis v0.354 MED11 Ain Roesley Gene: med11 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.215 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.215 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley Marked gene: MED11 as ready
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley Gene: med11 has been classified as Red List (Low Evidence).
Mendeliome v1.368 SLC13A1 Zornitza Stark Marked gene: SLC13A1 as ready
Mendeliome v1.368 SLC13A1 Zornitza Stark Gene: slc13a1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.354 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Skeletal dysplasia v0.214 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.214 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Mendeliome v1.368 GABRG1 Anna Ritchie gene: GABRG1 was added
gene: GABRG1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG1 were set to PMID: 36121006
Phenotypes for gene: GABRG1 were set to Developmental and epileptic encephalopathy MONDO:0100062
Added comment: 2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene.
Sources: Literature
Mendeliome v1.368 SLC32A1 Lucy Spencer reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36073542; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.368 SLC13A1 Zornitza Stark Classified gene: SLC13A1 as Red List (low evidence)
Mendeliome v1.368 SLC13A1 Zornitza Stark Gene: slc13a1 has been classified as Red List (Low Evidence).
Callosome v0.483 ATP6V0C Alison Yeung Marked gene: ATP6V0C as ready
Callosome v0.483 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Skeletal dysplasia v0.213 TAB2 Seb Lunke Marked gene: TAB2 as ready
Skeletal dysplasia v0.213 TAB2 Seb Lunke Gene: tab2 has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Callosome v0.483 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Callosome v0.483 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1681 SLC32A1 Lucy Spencer reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36073542; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.367 MED11 Ain Roesley Marked gene: MED11 as ready
Mendeliome v1.367 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Mendeliome v1.367 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Mendeliome v1.367 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Mendeliome v1.366 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.366 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Marked gene: GABRG1 as ready
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Gene: gabrg1 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.21 DUT Daniel Flanagan gene: DUT was added
gene: DUT was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Review for gene: DUT was set to AMBER
Added comment: Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.

p.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD.
Sources: Expert list
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Classified gene: GABRG1 as Red List (low evidence)
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Gene: gabrg1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Marked gene: SLC32A1 as ready
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Gene: slc32a1 has been classified as Green List (High Evidence).
Callosome v0.482 ATP6V0C Naomi Baker gene: ATP6V0C was added
gene: ATP6V0C was added to Callosome. Sources: Literature
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V0C were set to PMID:36074901
Phenotypes for gene: ATP6V0C were set to neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
Review for gene: ATP6V0C was set to GREEN
Added comment: 27 individuals reported with developmental delay, early-onset seizures, and ID. Of the 21 individuals with MRIs, five had agenesis/hypoplasia of the corpus callosum, five had cerebellar vermis, and four had delayed myelination. De novo variants identified in most individuals, including missense, frameshift and a stop-loss variant. Authors present some functional studies and postulate a dominant negative mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Classified gene: SLC32A1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Gene: slc32a1 has been classified as Green List (High Evidence).
Mendeliome v1.365 ATP6V0C Naomi Baker reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.136 TAB2 Belinda Chong gene: TAB2 was added
gene: TAB2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAB2 were set to 34456334; 36000780
Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Review for gene: TAB2 was set to GREEN
gene: TAB2 was marked as current diagnostic
Added comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal.
Sources: Literature
Genetic Epilepsy v0.1680 GABRG1 Anna Ritchie gene: GABRG1 was added
gene: GABRG1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG1 were set to PMID: 36121006
Phenotypes for gene: GABRG1 were set to developmental and epileptic encephalopathy MONDO:0100062
Review for gene: GABRG1 was set to RED
Added comment: 2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene.
Sources: Literature
Mendeliome v1.365 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Mendeliome v1.365 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Mendeliome v1.364 ATP6V0C Alison Yeung reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.213 TAB2 Belinda Chong gene: TAB2 was added
gene: TAB2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAB2 were set to 34456334; 36000780
Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Review for gene: TAB2 was set to GREEN
gene: TAB2 was marked as current diagnostic
Added comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal.
Sources: Literature
Mendeliome v1.364 SLC13A1 Lucy Spencer gene: SLC13A1 was added
gene: SLC13A1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related
Review for gene: SLC13A1 was set to RED
Added comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.

Also this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4971 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4971 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1680 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Genetic Epilepsy v0.1680 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Mendeliome v1.364 LAMA5 Zornitza Stark Classified gene: LAMA5 as Green List (high evidence)
Mendeliome v1.364 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1679 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Genetic Epilepsy v0.1679 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Mendeliome v1.363 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35419533; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4970 GABRG1 Anna Ritchie reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36121006; Phenotypes: Developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.212 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from Nephrotic syndrome to Nephrotic syndrome, type 26 620049
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Marked gene: SLC13A1 as ready
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Gene: slc13a1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Classified gene: SLC13A1 as Red List (low evidence)
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Added comment: Comment on list classification: Lots of hets and 1 hom, authors claim "predisposing to degenerative bone and joint disease"
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Gene: slc13a1 has been classified as Red List (Low Evidence).
Proteinuria v0.211 LAMA5 Zornitza Stark Classified gene: LAMA5 as Green List (high evidence)
Proteinuria v0.211 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Proteinuria v0.210 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.363 NAPB Alison Yeung Marked gene: NAPB as ready
Mendeliome v1.363 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Microcephaly v1.160 NAPB Alison Yeung Marked gene: NAPB as ready
Microcephaly v1.160 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Mendeliome v1.363 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Mendeliome v1.363 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Microcephaly v1.160 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Microcephaly v1.160 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Mendeliome v1.362 FKBP6 Zornitza Stark Marked gene: FKBP6 as ready
Mendeliome v1.362 FKBP6 Zornitza Stark Gene: fkbp6 has been classified as Green List (High Evidence).
Mendeliome v1.362 FKBP6 Zornitza Stark Classified gene: FKBP6 as Green List (high evidence)
Mendeliome v1.362 FKBP6 Zornitza Stark Gene: fkbp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1678 NAPB Alison Yeung Marked gene: NAPB as ready
Genetic Epilepsy v0.1678 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1678 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Genetic Epilepsy v0.1678 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.454 OSMR David Amor reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Marked gene: NAPB as ready
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Mendeliome v1.361 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Mendeliome v1.361 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4969 ATP6V0C Naomi Baker reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Gene: mtss1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Classified gene: MTSS1L as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Gene: mtss1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.72 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Fetal anomalies v1.72 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Fetal anomalies v1.72 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Fetal anomalies v1.72 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Growth failure v1.45 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Growth failure v1.45 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.147 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to AMBER
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with sensorineural hearing loss (2/4)
- Overexpression supports a DN mechanism
Sources: Literature
Mendeliome v1.361 SARS Ee Ming Wong edited their review of gene: SARS: Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families
-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation; Changed rating: GREEN; Changed publications: 36088542; Changed phenotypes: Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Growth failure v1.45 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Growth failure v1.45 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1677 ATP6V0C Naomi Baker reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Mendeliome v1.361 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Mendeliome v1.361 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Mendeliome v1.361 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Mendeliome v1.361 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Congenital nystagmus v1.16 MTSS1L Elena Savva Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS1-related (MONDO#0001071) to Intellectual disability, MTSS2-related (MONDO#0001071)
Cataract v0.346 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Cataract v0.346 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Cataract v0.346 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Cataract v0.346 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Microcephaly v1.159 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Microcephaly v1.159 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Mendeliome v1.360 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Mendeliome v1.360 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Microcephaly v1.159 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Microcephaly v1.159 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Mendeliome v1.359 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4968 SLC32A1 Lucy Spencer gene: SLC32A1 was added
gene: SLC32A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC32A1 were set to 36073542
Phenotypes for gene: SLC32A1 were set to developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related
Review for gene: SLC32A1 was set to GREEN
Added comment: PMID: 36073542- 4 patients with de novo missense. All have moderate to severe ID or developmental delay and seizures. 3 have a movement disorder. Developmental delay appears to be a new association for this gene described in this paper.
Sources: Literature
Microcephaly v1.158 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with microcephaly or relative microcephaly (5/5)
- Overexpression supports a DN mechanism
Sources: Literature
Genetic Epilepsy v0.1677 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Genetic Epilepsy v0.1677 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1677 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Genetic Epilepsy v0.1677 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1676 GCSH Ain Roesley Marked gene: GCSH as ready
Genetic Epilepsy v0.1676 GCSH Ain Roesley Gene: gcsh has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4968 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4968 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Congenital nystagmus v1.15 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Congenital nystagmus v1.15 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1676 GCSH Ain Roesley gene: GCSH was added
gene: GCSH was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 36190515
Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Penetrance for gene: GCSH were set to Complete
Review for gene: GCSH was set to GREEN
gene: GCSH was marked as current diagnostic
Added comment: 6x individuals, 3x with severe fatal glycine encephalopathy and 3x attenuated phenotype of developmental delay, behavioural problems, limited epilepsy, and variable movement problems

Severe fatal variants: 2x start loss and 1x missense
Attenuated variants : 2x missense and 1x exon 4-5 dup
Sources: Literature
Congenital nystagmus v1.14 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Congenital nystagmus. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5)
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4967 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4967 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.145 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1L Elena Savva Gene: mtss1l has been classified as Red List (Low Evidence).
Mendeliome v1.358 DAW1 Alison Yeung Marked gene: DAW1 as ready
Mendeliome v1.358 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Marked gene: DAW1 as ready
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.358 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Mendeliome v1.358 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Proteinuria v0.210 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, Alport syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.357 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1 Elena Savva Deleted their review
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Microcephaly v1.157 MTSS1 Elena Savva Deleted their review
Microcephaly v1.157 MTSS1 Elena Savva Deleted their comment
Callosome v0.482 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321; 36190515
Intellectual disability syndromic and non-syndromic v0.4965 GCSH Ain Roesley reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Callosome v0.481 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Mendeliome v1.356 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Mendeliome v1.356 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Callosome v0.481 GCSH Ain Roesley Classified gene: GCSH as Amber List (moderate evidence)
Callosome v0.481 GCSH Ain Roesley Gene: gcsh has been classified as Amber List (Moderate Evidence).
Microcephaly v1.157 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD. Also noted to have progressive microcephaly (9th to <0.4th centile)

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.356 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Mendeliome v1.356 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.355 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Microcephaly v1.157 MTSS1 Elena Savva gene: MTSS1 was added
gene: MTSS1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1 were set to PMID: 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with microcephaly or relative microcephaly (5/5)
- Overexpression supports a DN mechanism
Sources: Literature
Callosome v0.480 GCSH Ain Roesley reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.354 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.354 FKBP6 Dean Phelan gene: FKBP6 was added
gene: FKBP6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FKBP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP6 were set to PMID: 36150389
Phenotypes for gene: FKBP6 were set to Spermatogenic failure (MONDO:0004983), FKBP6-related
Review for gene: FKBP6 was set to GREEN
Added comment: PMID: 36150389 - large cohort study of men with severe spermatogenic failure (SPGF), identified six individuals with rare bi-allelic loss of function variants in FKBP6. RT-qPCR and immunofluorescence confirmed lack of FKBP6 expression. In mice, Fkbp6 has also been shown to be essential for spermatogenesis.
Sources: Literature
Mendeliome v1.354 GCSH Ain Roesley Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM# 605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Intellectual disability syndromic and non-syndromic v0.4965 MTSS1 Elena Savva gene: MTSS1 was added
gene: MTSS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1 were set to PMID: 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Mendeliome v1.353 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Mendeliome v1.352 GCSH Ain Roesley edited their review of gene: GCSH: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Mendeliome v1.352 GCSH Ain Roesley edited their review of gene: GCSH: Changed phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related
Microcephaly v1.156 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1675 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Microcephaly v1.156 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Marked gene: DAW1 as ready
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.352 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Mendeliome v1.352 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Microcephaly v1.156 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.212 SLC13A1 Lucy Spencer gene: SLC13A1 was added
gene: SLC13A1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related
Review for gene: SLC13A1 was set to RED
Added comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.

Also this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4964 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4963 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.351 GCSH Ain Roesley reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: glycine encephalopathy MONDO#0011612, GCSH-related, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Microcephaly v1.155 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4962 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung changed review comment from: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature; to: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4961 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Intellectual disability syndromic and non-syndromic v0.4960 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Intellectual disability syndromic and non-syndromic v0.4959 NSD2 Zornitza Stark edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed publications: 30345613, 31171569, 36189577; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.351 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Mendeliome v1.350 NSD2 Zornitza Stark edited their review of gene: NSD2: Changed publications: 36189577
Mendeliome v1.350 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.349 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Mendeliome v1.348 NSD2 Zornitza Stark edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.348 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Growth failure v1.44 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cataract v0.345 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Fetal anomalies v1.71 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4959 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID (mild to severe)
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Ectodermal Dysplasia v0.72 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.454 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Nephronophthisis to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
Genomic newborn screening: BabyScreen+ v0.453 NPHP1 Zornitza Stark Classified gene: NPHP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.453 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.452 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.452 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Genomic newborn screening: BabyScreen+ v0.451 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann Pick C2, OMIM 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.451 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Genomic newborn screening: BabyScreen+ v0.450 NPC1 Zornitza Stark Tag for review tag was added to gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.450 NPC1 Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, MIM# 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.450 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310
Genomic newborn screening: BabyScreen+ v0.449 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.449 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.448 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.448 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Hajdu-Cheney syndrome to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Genomic newborn screening: BabyScreen+ v0.447 NOTCH2 Zornitza Stark Classified gene: NOTCH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.447 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.446 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.446 ORC1 David Amor reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Marked gene: NOG as ready
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.446 NOG Zornitza Stark Phenotypes for gene: NOG were changed from Symphalangism, proximal, 1A to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Genomic newborn screening: BabyScreen+ v0.445 NOG Zornitza Stark Classified gene: NOG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.445 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.444 NOG Zornitza Stark edited their review of gene: NOG: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.444 NOG Zornitza Stark reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Marked gene: NNT as ready
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.444 NNT Zornitza Stark Publications for gene: NNT were set to
Genomic newborn screening: BabyScreen+ v0.443 NNT Zornitza Stark Tag treatable tag was added to gene: NNT.
Genomic newborn screening: BabyScreen+ v0.443 NNT Zornitza Stark reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.443 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Genomic newborn screening: BabyScreen+ v0.442 OPA1 David Amor reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.442 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.442 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 1, MIM# 122470
Genomic newborn screening: BabyScreen+ v0.441 NIPBL Zornitza Stark Classified gene: NIPBL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.441 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.440 NIPBL Zornitza Stark reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.440 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, autosomal recessive to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
Genomic newborn screening: BabyScreen+ v0.439 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Genomic newborn screening: BabyScreen+ v0.438 NIPAL4 Zornitza Stark reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 6, MIM# 612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.438 OFD1 David Amor reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome I; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.438 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Myoclonic epilepsy of Lafora to Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780
Genomic newborn screening: BabyScreen+ v0.437 NHLRC1 Zornitza Stark Classified gene: NHLRC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.437 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark Tag treatable tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ v0.436 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.436 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, multifocal epilepsy & abnormal liver function to Congenital disorder of deglycosylation, MIM# 615273
Genomic newborn screening: BabyScreen+ v0.435 NGLY1 Zornitza Stark Classified gene: NGLY1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.435 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.434 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Marked gene: NF2 as ready
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.434 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from Neurofibromatosis 2 to Neurofibromatosis, type 2 (MIM# 101000)
Genomic newborn screening: BabyScreen+ v0.433 NF2 Zornitza Stark Classified gene: NF2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.433 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.432 NF2 Zornitza Stark reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2 (MIM# 101000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Marked gene: NF1 as ready
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.432 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, MIM# 162200
Genomic newborn screening: BabyScreen+ v0.431 NF1 Zornitza Stark Publications for gene: NF1 were set to
Genomic newborn screening: BabyScreen+ v0.430 NF1 Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1, MIM# 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark Tag treatable tag was added to gene: NEUROG3.
Genomic newborn screening: BabyScreen+ v0.430 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.430 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis to Sialidosis, type I and type II, MIM# 256550
Genomic newborn screening: BabyScreen+ v0.429 NEU1 Zornitza Stark Classified gene: NEU1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.429 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.428 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis, type I and type II, MIM# 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Classified gene: NEK8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.427 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Classified gene: NEK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.426 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Marked gene: NEFL as ready
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.426 NEFL Zornitza Stark Phenotypes for gene: NEFL were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684
Genomic newborn screening: BabyScreen+ v0.425 OCRL David Amor reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.425 NEFL Zornitza Stark Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.424 NEFL Zornitza Stark Classified gene: NEFL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.424 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.423 NEFL Zornitza Stark reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Marked gene: NEB as ready
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.423 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy to Nemaline myopathy 2, autosomal recessive 256030; Arthrogryposis multiplex congenita 6, MIM# 619334
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Classified gene: NEB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.422 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.421 NEB Zornitza Stark reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Marked gene: NDP as ready
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.421 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease to Norrie disease, MIM# 310600
Genomic newborn screening: BabyScreen+ v0.420 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.420 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.419 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.419 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Genomic newborn screening: BabyScreen+ v0.418 NCF2 Zornitza Stark Tag treatable tag was added to gene: NCF2.
Genomic newborn screening: BabyScreen+ v0.418 NCF2 Zornitza Stark reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.418 OCA2 David Amor reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.418 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
Genomic newborn screening: BabyScreen+ v0.417 NCF1 Zornitza Stark Tag treatable tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v0.417 NCF1 Zornitza Stark reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 1, autosomal recessive, MIM# 233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Marked gene: NBN as ready
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Classified gene: NBN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NBN Zornitza Stark Tag for review tag was added to gene: NBN.
Genomic newborn screening: BabyScreen+ v0.416 NBN Zornitza Stark reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Marked gene: NAGS as ready
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark Tag treatable tag was added to gene: NAGS.
Genomic newborn screening: BabyScreen+ v0.416 NAGS Zornitza Stark reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency - MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 OBSL1 David Amor reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.416 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Sanfilippo syndrome type B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Genomic newborn screening: BabyScreen+ v0.415 NAGLU Zornitza Stark Tag treatable tag was added to gene: NAGLU.
Genomic newborn screening: BabyScreen+ v0.415 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Marked gene: NAGA as ready
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.415 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from N-acetylgalactosaminidase alpha deficiency to Kanzaki disease, MIM# 609242
Genomic newborn screening: BabyScreen+ v0.414 NAGA Zornitza Stark Classified gene: NAGA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.414 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.413 NAGA Zornitza Stark reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease, MIM# 609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Classified gene: MYO9A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.412 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.412 NEU1 David Amor edited their review of gene: NEU1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.412 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome to Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900
Genomic newborn screening: BabyScreen+ v0.411 MYO7A Zornitza Stark reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 2, 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Marked gene: MYO6 as ready
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Gene: myo6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.411 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness to Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821
Genomic newborn screening: BabyScreen+ v0.410 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.409 MYO6 Zornitza Stark Tag for review tag was added to gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.409 MYO6 Zornitza Stark reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, MIM# 606346, Deafness, autosomal recessive 37, MIM# 607821; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.409 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 30, MIM:607101
Genomic newborn screening: BabyScreen+ v0.408 MYO3A Zornitza Stark Classified gene: MYO3A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.408 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.407 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Marked gene: MYO15A as ready
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Gene: myo15a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.407 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 3, MIM# 600316
Genomic newborn screening: BabyScreen+ v0.406 MYO15A Zornitza Stark reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3, MIM# 600316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.406 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from Macrothrombocytopenia and progressive sensorineural deafness to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Genomic newborn screening: BabyScreen+ v0.405 MYH9 Zornitza Stark Classified gene: MYH9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.405 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.404 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, MIM# 603622, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.404 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.403 MYH7 Zornitza Stark Classified gene: MYH7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.403 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.402 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426 MONDO:0013262, Cardiomyopathy, hypertrophic, 1, MIM# 192600, Laing distal myopathy, MIM# 160500, Myopathy, myosin storage, autosomal dominant, MIM# 608358, Myopathy, myosin storage, autosomal recessive, MIM# 255160; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.402 MYH3 Zornitza Stark Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
Genomic newborn screening: BabyScreen+ v0.401 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.400 MYH3 Zornitza Stark Classified gene: MYH3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.400 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.399 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Marked gene: MYH2 as ready
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.399 MYH2 Zornitza Stark Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia to Proximal myopathy and ophthalmoplegia, MIM# 605637
Genomic newborn screening: BabyScreen+ v0.398 MYH2 Zornitza Stark Classified gene: MYH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.398 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.397 MYH2 Zornitza Stark reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.397 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 4A, MIM# 600652; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
Genomic newborn screening: BabyScreen+ v0.396 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Genomic newborn screening: BabyScreen+ v0.395 MYH14 Zornitza Stark Classified gene: MYH14 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.395 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.394 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652, Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Marked gene: MYCN as ready
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.394 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from Feingold syndrome to Feingold syndrome 1, MIM# 164280
Genomic newborn screening: BabyScreen+ v0.393 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.393 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.392 MYCN Zornitza Stark reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome 1, MIM# 164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.391 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Marked gene: MVK as ready
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.391 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 to Mevalonic aciduria, MIM# 610377
Genomic newborn screening: BabyScreen+ v0.390 MVK Zornitza Stark Publications for gene: MVK were set to
Genomic newborn screening: BabyScreen+ v0.389 MVK Zornitza Stark Tag treatable tag was added to gene: MVK.
Genomic newborn screening: BabyScreen+ v0.389 MVK Zornitza Stark reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Marked gene: XPA as ready
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.389 XPA Zornitza Stark Phenotypes for gene: XPA were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group A MIM#278700
Genomic newborn screening: BabyScreen+ v0.388 XPA Zornitza Stark Tag treatable tag was added to gene: XPA.
Tag clinical trial tag was added to gene: XPA.
Mendeliome v1.348 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to 20832341
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Marked gene: XPC as ready
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.388 XPC Zornitza Stark Phenotypes for gene: XPC were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group C MIM#278720
Genomic newborn screening: BabyScreen+ v0.387 XPC Zornitza Stark Publications for gene: XPC were set to
Genomic newborn screening: BabyScreen+ v0.386 XPC Zornitza Stark Tag treatable tag was added to gene: XPC.
Tag clinical trial tag was added to gene: XPC.
Mendeliome v1.347 TRAF3 Zornitza Stark Classified gene: TRAF3 as Green List (high evidence)
Mendeliome v1.347 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Mendeliome v1.346 TRAF3 Zornitza Stark changed review comment from: Single individual reported.; to: Single individual reported with HSV-induced encephalopathy.
Mendeliome v1.346 TRAF3 Zornitza Stark edited their review of gene: TRAF3: Added comment: PMID 35960817: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals; Changed rating: GREEN; Changed publications: 20832341, 35960817; Changed phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751, hypergammaglobulinemia, lymphadenopathy, splenomegaly, Sjögren’s syndrome, {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.157 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome
Disorders of immune dysregulation v0.156 TRAF3 Zornitza Stark Classified gene: TRAF3 as Green List (high evidence)
Disorders of immune dysregulation v0.156 TRAF3 Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.155 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.386 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from MUTYH-associated polyposis to Adenomas, multiple colorectal, MIM# 608456
Genomic newborn screening: BabyScreen+ v0.385 MUTYH Zornitza Stark Classified gene: MUTYH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.385 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Microcephaly v1.154 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

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Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Fetal anomalies v1.71 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

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Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Differences of Sex Development v0.267 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

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Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Arthrogryposis v0.353 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

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Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Central Hypoventilation v1.3 KCNK3 Krithika Murali gene: KCNK3 was added
gene: KCNK3 was added to Central Hypoventilation. Sources: Literature
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA)
Review for gene: KCNK3 was set to GREEN
Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9.

KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy.

----

Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension
Sources: Literature
Mendeliome v1.346 KCNK3 Krithika Murali reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36195757; Phenotypes: eurodevelopmental disorder, MONDO:0700092, KCNK3-related, developmental delay with sleep apnoea (DDSA), Pulmonary hypertension, primary, 4-MIM#615344; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4959 KCNK3 Krithika Murali reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36195757; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNK3-related, developmental delay with sleep apnoea (DDSA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.13 KCNK3 Krithika Murali reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.346 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Combined Immunodeficiency v1.26 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Bone Marrow Failure v1.21 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MYSM1 Zornitza Stark reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4, MIM#618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v1.9 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Marked gene: MUSK as ready
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark Tag treatable tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.384 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.196 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Hereditary Neuropathy v0.135 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Dyslipidaemia v0.35 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Ataxia v0.344 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Regression v0.507 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Congenital Diarrhoea v1.10 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Marked gene: MTTP as ready
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.384 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinaemia to Abetalipoproteinemia, MIM# 200100
Genomic newborn screening: BabyScreen+ v0.383 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.383 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Marked gene: MTRR as ready
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.383 MTRR Zornitza Stark Publications for gene: MTRR were set to
Genomic newborn screening: BabyScreen+ v0.382 MTRR Zornitza Stark reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.382 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from Parietal foramina 1 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Genomic newborn screening: BabyScreen+ v0.381 MSX2 Zornitza Stark Classified gene: MSX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.381 MSX2 Zornitza Stark Gene: msx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MSX2 Zornitza Stark reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Marked gene: MRAP as ready
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Gene: mrap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark Tag treatable tag was added to gene: MRAP.
Genomic newborn screening: BabyScreen+ v0.380 MRAP Zornitza Stark reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, MIM# 607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Marked gene: MTR as ready
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.380 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Methylmalonic aciduria and homocystinuria, MIM#250940 to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Genomic newborn screening: BabyScreen+ v0.379 MTR Zornitza Stark Publications for gene: MTR were set to
Genomic newborn screening: BabyScreen+ v0.378 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.378 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myopathy, centronuclear, X-linked, MIM# 310400
Genomic newborn screening: BabyScreen+ v0.377 MTM1 Zornitza Stark Classified gene: MTM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.377 MTM1 Zornitza Stark Gene: mtm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.376 MTM1 Zornitza Stark reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Marked gene: MPZ as ready
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.376 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677
Genomic newborn screening: BabyScreen+ v0.375 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.374 MPZ Zornitza Stark Classified gene: MPZ as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.374 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.373 MPZ Zornitza Stark reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, dominant intermediate D, 60779, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, type 1B, 118200, Charcot Marie Tooth disease, type 2I, 607677; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.373 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome, hepatic to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Genomic newborn screening: BabyScreen+ v0.372 MPV17 Zornitza Stark Classified gene: MPV17 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.372 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.371 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Tag treatable tag was added to gene: MPL.
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Marked gene: MPL as ready
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.371 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Thrombocytopaenia, congenital amegakaryocytic, MIM# 604498 to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Genomic newborn screening: BabyScreen+ v0.370 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Amegakaryocytic thrombocytopaenia, congenital to Thrombocytopaenia, congenital amegakaryocytic, MIM# 604498
Genomic newborn screening: BabyScreen+ v0.369 MPL Zornitza Stark Publications for gene: MPL were set to
Genomic newborn screening: BabyScreen+ v0.368 MPL Zornitza Stark reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, congenital amegakaryocytic, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Marked gene: MPI as ready
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.368 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation 1b to Congenital disorder of glycosylation, type Ib, MIM# 602579
Genomic newborn screening: BabyScreen+ v0.367 MPI Zornitza Stark Publications for gene: MPI were set to
Genomic newborn screening: BabyScreen+ v0.366 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Classified gene: MPDU1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.366 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.365 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from Molybdenum cofactor deficiency to Molybdenum cofactor deficiency B, MIM#252160
Genomic newborn screening: BabyScreen+ v0.364 MOCS2 Zornitza Stark Classified gene: MOCS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.364 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.363 MOCS2 Zornitza Stark reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency B MIM#252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.346 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Miscellaneous Metabolic Disorders v1.23 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Intellectual disability syndromic and non-syndromic v0.4959 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Genetic Epilepsy v0.1675 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.363 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Genomic newborn screening: BabyScreen+ v0.362 MOCS1 Zornitza Stark reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.362 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Hyperammonaemia v0.6 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Cardiomyopathy_Paediatric v0.134 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Intellectual disability syndromic and non-syndromic v0.4959 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Mendeliome v1.346 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Fatty Acid Oxidation Defects v1.8 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.362 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Genomic newborn screening: BabyScreen+ v0.361 MLYCD Zornitza Stark reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.361 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from ZAP70-related severe combined immunodeficiency to Immunodeficiency MIM#176947
Genomic newborn screening: BabyScreen+ v0.360 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Genomic newborn screening: BabyScreen+ v0.359 ZAP70 Zornitza Stark Tag treatable tag was added to gene: ZAP70.
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.359 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome to Mowat-Wilson syndrome MIM# 235730
Genomic newborn screening: BabyScreen+ v0.358 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Genomic newborn screening: BabyScreen+ v0.357 ZEB2 Zornitza Stark Classified gene: ZEB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.357 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.356 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly-5 to Holoprosencephaly MIM#603073
Genomic newborn screening: BabyScreen+ v0.355 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Genomic newborn screening: BabyScreen+ v0.354 ZIC2 Zornitza Stark Classified gene: ZIC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.354 ZIC2 Zornitza Stark Gene: zic2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.353 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from Heterotaxy to X linked heterotaxy and congenital heart defects MIM:306955
Genomic newborn screening: BabyScreen+ v0.352 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Genomic newborn screening: BabyScreen+ v0.351 ZIC3 Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.351 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.350 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Restrictive dermopathy to Restrictive dermopathy 1, MIM# MIM:275210
Genomic newborn screening: BabyScreen+ v0.349 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Genomic newborn screening: BabyScreen+ v0.348 ZMPSTE24 Zornitza Stark Classified gene: ZMPSTE24 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.348 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.347 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Restrictive dermopathy 1, MIM# MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Marked gene: ZNF469 as ready
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.347 ZNF469 Zornitza Stark Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome to Brittle cornea syndrome MIM#229200
Genomic newborn screening: BabyScreen+ v0.346 ZNF469 Zornitza Stark Publications for gene: ZNF469 were set to
Genomic newborn screening: BabyScreen+ v0.345 ZNF469 Zornitza Stark Classified gene: ZNF469 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.345 ZNF469 Zornitza Stark Gene: znf469 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.344 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
Genomic newborn screening: BabyScreen+ v0.343 MLC1 Zornitza Stark Classified gene: MLC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.343 MLC1 Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MLC1 Zornitza Stark reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Marked gene: NANS as ready
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Classified gene: NANS as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Marked gene: NBAS as ready
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Classified gene: NPR2 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type - MIM#602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark Classified gene: NPR2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.342 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome to Joubert syndrome 28, MIM# 617121 MONDO:0014928; Meckel syndrome 1, MIM# 249000 MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441
Genomic newborn screening: BabyScreen+ v0.341 MKS1 Zornitza Stark Classified gene: MKS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.341 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.340 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 28, MIM# 617121 MONDO:0014928, Meckel syndrome 1, MIM# 249000 MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Marked gene: MKKS as ready
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.340 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700
Genomic newborn screening: BabyScreen+ v0.339 MKKS Zornitza Stark Classified gene: MKKS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.339 MKKS Zornitza Stark Gene: mkks has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.338 MKKS Zornitza Stark reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231), McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.338 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Genomic newborn screening: BabyScreen+ v0.337 LAMB3 Zornitza Stark Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.336 LAMB3 Zornitza Stark Classified gene: LAMB3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.336 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.335 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Genomic newborn screening: BabyScreen+ v0.334 LAMA2 Zornitza Stark Classified gene: LAMA2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.334 LAMA2 Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Marked gene: MITF as ready
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.333 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg syndrome to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Genomic newborn screening: BabyScreen+ v0.332 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.331 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 2A, MIM# 193510, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Marked gene: MGP as ready
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.331 MGP Zornitza Stark Phenotypes for gene: MGP were changed from Keutel syndrome to Keutel syndrome, MIM #245150
Genomic newborn screening: BabyScreen+ v0.330 MGP Zornitza Stark Classified gene: MGP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.330 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.329 MGP Zornitza Stark reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Classified gene: MGAT2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.329 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.328 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.328 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Genomic newborn screening: BabyScreen+ v0.327 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Genomic newborn screening: BabyScreen+ v0.326 MFSD8 Zornitza Stark Classified gene: MFSD8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.326 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.325 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: 31597037; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.325 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152
Genomic newborn screening: BabyScreen+ v0.324 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.323 MFN2 Zornitza Stark Classified gene: MFN2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.323 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.322 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.322 MEN1 Zornitza Stark Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia I to Multiple endocrine neoplasia 1, MIM#131100
Genomic newborn screening: BabyScreen+ v0.321 MEN1 Zornitza Stark Tag for review tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.321 MEN1 Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM#131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Marked gene: MEGF10 as ready
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.321 MEGF10 Zornitza Stark Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399
Genomic newborn screening: BabyScreen+ v0.320 MEGF10 Zornitza Stark Classified gene: MEGF10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.320 MEGF10 Zornitza Stark Gene: megf10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.319 MEGF10 Zornitza Stark reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Marked gene: MEFV as ready
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.319 MEFV Zornitza Stark Phenotypes for gene: MEFV were changed from Mediterranean fever, familial to Familial Mediterranean fever MIM# 249100
Genomic newborn screening: BabyScreen+ v0.318 MEFV Zornitza Stark Tag for review tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.318 MEFV Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Marked gene: MED25 as ready
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Classified gene: MED25 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.318 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.317 MED25 Zornitza Stark reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Marked gene: MED12 as ready
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.317 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Intellectual disability to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068
Genomic newborn screening: BabyScreen+ v0.316 MED12 Zornitza Stark Classified gene: MED12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.316 MED12 Zornitza Stark Gene: med12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.315 MED12 Zornitza Stark reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450, Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.315 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Rett syndrome to MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055
Genomic newborn screening: BabyScreen+ v0.314 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.313 MECP2 Zornitza Stark Classified gene: MECP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.313 MECP2 Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.312 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.312 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive to Microcephaly 1, primary, autosomal recessive, MIM# 251200
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark Classified gene: MCPH1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.311 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Proteinuria v0.210 MEFV Zornitza Stark Marked gene: MEFV as ready
Proteinuria v0.210 MEFV Zornitza Stark Gene: mefv has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark Tag for review tag was added to gene: COQ8B.
Genomic newborn screening: BabyScreen+ v0.310 COQ8B Zornitza Stark reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.310 COQ8A Zornitza Stark Publications for gene: COQ8A were set to
Rhabdomyolysis and Metabolic Myopathy v0.90 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Dystonia and Chorea v0.217 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Ataxia v0.344 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Intellectual disability syndromic and non-syndromic v0.4959 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Regression v0.507 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Mitochondrial disease v0.836 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Mendeliome v1.346 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.309 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.309 COQ8A Zornitza Stark reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark Tag for review tag was added to gene: COQ7.
Genomic newborn screening: BabyScreen+ v0.309 COQ7 Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.134 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Ataxia v0.344 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Intellectual disability syndromic and non-syndromic v0.4959 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Regression v0.507 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Mitochondrial disease v0.836 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genetic Epilepsy v0.1675 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Mendeliome v1.346 COQ4 Zornitza Stark changed review comment from: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported. At least 9 unrelated families reported.; to: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported. At least 9 unrelated families reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.
Mendeliome v1.346 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.309 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.6 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Congenital Myasthenia v1.9 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Mendeliome v1.346 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Marked gene: COLQ as ready
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark Tag treatable tag was added to gene: COLQ.
Tag clinical trial tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.309 COLQ Zornitza Stark reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.309 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark edited their review of gene: CLN8: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.308 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genomic newborn screening: BabyScreen+ v0.307 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Genomic newborn screening: BabyScreen+ v0.306 CLN8 Zornitza Stark Classified gene: CLN8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.306 CLN8 Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.305 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.305 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
Genomic newborn screening: BabyScreen+ v0.304 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Genomic newborn screening: BabyScreen+ v0.303 CLN6 Zornitza Stark Classified gene: CLN6 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.303 CLN6 Zornitza Stark Gene: cln6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.302 CLN6 Zornitza Stark Tag for review tag was added to gene: CLN6.
Tag clinical trial tag was added to gene: CLN6.
Genomic newborn screening: BabyScreen+ v0.302 CLN6 Zornitza Stark reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.302 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Genomic newborn screening: BabyScreen+ v0.301 CLN5 Zornitza Stark Classified gene: CLN5 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.301 CLN5 Zornitza Stark Gene: cln5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.300 CLN5 Zornitza Stark Tag for review tag was added to gene: CLN5.
Tag clinical trial tag was added to gene: CLN5.
Genomic newborn screening: BabyScreen+ v0.300 CLN5 Zornitza Stark reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.300 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Genomic newborn screening: BabyScreen+ v0.299 CLN3 Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.299 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CLN3 Zornitza Stark Tag for review tag was added to gene: CLN3.
Tag clinical trial tag was added to gene: CLN3.
Genomic newborn screening: BabyScreen+ v0.298 CLN3 Zornitza Stark reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Classified gene: PAM16 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Marked gene: PCNT as ready
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Classified gene: PCNT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Marked gene: POC1A as ready
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Classified gene: POC1A as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Marked gene: POP1 as ready
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Classified gene: POP1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Classified gene: ROR2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.298 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from Pterygium syndrome to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290
Genomic newborn screening: BabyScreen+ v0.297 CHRNG Zornitza Stark Classified gene: CHRNG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.297 CHRNG Zornitza Stark Gene: chrng has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.296 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.296 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from Congenital myasthenic syndrome, MIM#605809 to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Congenital ophthalmoplegia v1.6 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Congenital Myasthenia v1.9 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Mendeliome v1.346 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Congenital ophthalmoplegia v1.6 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Congenital Myasthenia v1.9 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Mendeliome v1.346 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Genomic newborn screening: BabyScreen+ v0.295 CHRNE Zornitza Stark changed review comment from: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.

Severe disorder, congenital.; to: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.

Severe disorder, congenital.

Treatment available.
Genomic newborn screening: BabyScreen+ v0.295 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder, perinatal onset.

Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors; to: Well established gene-disease association for bi-allelic variants. Single individual only with mono-allelic variant reported.

Severe disorder, perinatal onset.

Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Marked gene: CHRND as ready
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.295 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome, MIM#616321 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Genomic newborn screening: BabyScreen+ v0.294 CHRND Zornitza Stark Publications for gene: CHRND were set to
Genomic newborn screening: BabyScreen+ v0.293 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.6 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Congenital Myasthenia v1.9 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Mendeliome v1.346 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.293 SLC5A2 Zornitza Stark Phenotypes for gene: SLC5A2 were changed from Renal glucosuria to Renal glucosuria, MIM# 233100
Genomic newborn screening: BabyScreen+ v0.292 SLC5A2 Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.291 SLC5A2 Zornitza Stark Classified gene: SLC5A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.291 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.290 SLC5A2 Zornitza Stark reviewed gene: SLC5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.71 ADAMTS19 Zornitza Stark Phenotypes for gene: ADAMTS19 were changed from Heart valve disorder, MONDO:0002869 to Cardiac valvular dysplasia 2, MIM# 620067
Fetal anomalies v1.70 ADAMTS19 Zornitza Stark edited their review of gene: ADAMTS19: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.70 ADAMTS19 Zornitza Stark reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac valvular dysplasia 2, MIM# 620067; Mode of inheritance: None
Mendeliome v1.346 ADAMTS19 Zornitza Stark Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067
Mendeliome v1.345 ADAMTS19 Zornitza Stark edited their review of gene: ADAMTS19: Changed phenotypes: Cardiac valvular dysplasia 2, MIM# 620067
Congenital Heart Defect v0.266 ADAMTS19 Zornitza Stark Phenotypes for gene: ADAMTS19 were changed from Non-syndromic heart valve disease to Cardiac valvular dysplasia 2, MIM# 620067
Congenital Heart Defect v0.265 ADAMTS19 Zornitza Stark edited their review of gene: ADAMTS19: Changed phenotypes: Cardiac valvular dysplasia 2, MIM# 620067
Congenital nystagmus v1.13 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Intellectual disability syndromic and non-syndromic v0.4959 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Congenital nystagmus v1.12 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.154 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Intellectual disability syndromic and non-syndromic v0.4958 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.265 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Microcephaly v1.153 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.264 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.345 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Mendeliome v1.344 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4958 DPH2 Zornitza Stark Phenotypes for gene: DPH2 were changed from Diphthamide-deficiency syndrome to Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Diphthamide-deficiency syndrome
Intellectual disability syndromic and non-syndromic v0.4957 DPH2 Zornitza Stark reviewed gene: DPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.344 DPH2 Zornitza Stark Phenotypes for gene: DPH2 were changed from Diphthamide-deficiency syndrome to Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Diphthamide-deficiency syndrome
Mendeliome v1.343 DPH2 Zornitza Stark reviewed gene: DPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.290 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Congenital myasthenic syndrome, MIM#601462 to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Genomic newborn screening: BabyScreen+ v0.289 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark edited their review of gene: CHRNA1: Changed publications: 30808424
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.288 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.6 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Congenital Myasthenia v1.9 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Arthrogryposis v0.353 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Mendeliome v1.343 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Marked gene: CHAT as ready
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark Tag treatable tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.288 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Marked gene: CA5A as ready
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Mendeliome v1.343 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.288 CA5A Zornitza Stark reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark changed review comment from: Well established gene-disease association.

Childhood onset.

Treatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable.

Childhood onset.

Treatable with IVIG.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Predominantly Antibody Deficiency v0.119 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Mendeliome v1.343 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Marked gene: BTK as ready
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark Tag treatable tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark commented on gene: BTK: Well established gene-disease association.

Childhood onset.

Treatable with IVIG.
Genomic newborn screening: BabyScreen+ v0.288 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.288 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Complex 3 deficiency to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Genomic newborn screening: BabyScreen+ v0.287 BCS1L Zornitza Stark Classified gene: BCS1L as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.287 BCS1L Zornitza Stark Gene: bcs1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.286 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Intellectual disability syndromic and non-syndromic v0.4957 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark commented on gene: BCKDK: Confirmatory non-genetic testing: serum amino acids, urine organic acids
Genomic newborn screening: BabyScreen+ v0.286 BCKDK Zornitza Stark reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 BCHE Zornitza Stark Tag for review tag was added to gene: BCHE.
Genomic newborn screening: BabyScreen+ v0.286 BCHE Zornitza Stark reviewed gene: BCHE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Marked gene: AUH as ready
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.286 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I to 3-methylglutaconic aciduria, type I , MIM#250950
Genomic newborn screening: BabyScreen+ v0.285 AUH Zornitza Stark Classified gene: AUH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.285 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.284 AUH Zornitza Stark reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.284 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Classified gene: MCOLN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.283 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Marked gene: SHOX as ready
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Classified gene: SHOX as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Classified gene: SLC10A7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Classified gene: SLC29A3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Classified gene: SMAD4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Classified gene: SMARCAL1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Marked gene: TBX15 as ready
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Classified gene: TBX15 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.282 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from Wilson disease to Wilson disease MIM#277900
Genomic newborn screening: BabyScreen+ v0.281 ATP7B Zornitza Stark Tag for review tag was added to gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.281 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Miscellaneous Metabolic Disorders v1.23 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Mendeliome v1.343 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Hair disorders v0.64 ASL Zornitza Stark Marked gene: ASL as ready
Hair disorders v0.64 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Hair disorders v0.64 ASL Zornitza Stark Phenotypes for gene: ASL were changed from Argininosuccinic aciduria, 207900 to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Hair disorders v0.63 ASL Zornitza Stark Publications for gene: ASL were set to 31332722
Hair disorders v0.62 ASL Zornitza Stark changed review comment from: Intellectual disability is a feature of this metabolic condition.
Sources: Expert list; to: Trichorrhexis nodosa; dry brittle hair.
Sources: Expert list
Hair disorders v0.62 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Intellectual disability syndromic and non-syndromic v0.4957 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Regression v0.507 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Mendeliome v1.343 ARSB Zornitza Stark Tag clinical trial tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Marked gene: ASL as ready
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.281 ASL Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.212 ARSB Zornitza Stark Marked gene: ARSB as ready
Skeletal dysplasia v0.212 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.212 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Skeletal dysplasia v0.211 ARSB Zornitza Stark Publications for gene: ARSB were set to
Skeletal dysplasia v0.210 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Intellectual disability syndromic and non-syndromic v0.4957 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Lysosomal Storage Disorder v1.6 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Macrocephaly_Megalencephaly v0.121 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Mendeliome v1.343 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Marked gene: ARSB as ready
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.281 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200
Genomic newborn screening: BabyScreen+ v0.280 ARSB Zornitza Stark Publications for gene: ARSB were set to
Genomic newborn screening: BabyScreen+ v0.279 ARSB Zornitza Stark Tag treatable tag was added to gene: ARSB.
Tag clinical trial tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.279 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31142378; Phenotypes: Mucopolysaccharidosis VI (MPS6, MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4957 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Intellectual disability syndromic and non-syndromic v0.4957 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Hyperammonaemia v0.6 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Miscellaneous Metabolic Disorders v1.23 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Intellectual disability syndromic and non-syndromic v0.4957 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800
Hereditary Spastic Paraplegia v1.48 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Regression v0.507 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Regression v0.507 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4956 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.507 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800
Intellectual disability syndromic and non-syndromic v0.4955 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4955 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Regression v0.506 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.505 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Regression v0.505 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1675 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Mendeliome v1.343 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.279 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Intellectual disability syndromic and non-syndromic v0.4955 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Mendeliome v1.343 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Marked gene: AHCY as ready
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.279 AHCY Zornitza Stark Mode of inheritance for gene: AHCY was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.278 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.278 AHCY Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Marked gene: AGL as ready
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.278 AGL Zornitza Stark Publications for gene: AGL were set to
Genomic newborn screening: BabyScreen+ v0.277 AGL Zornitza Stark edited their review of gene: AGL: Changed publications: 20631546, 27106217
Genomic newborn screening: BabyScreen+ v0.277 AGL Zornitza Stark reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631546; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Marked gene: HOXD13 as ready
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Phenotypes for gene: HOXD13 were changed from brachydactyly to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713
Hand and foot malformations v0.69 HOXD13 Zornitza Stark Publications for gene: HOXD13 were set to 12649808; 17236141
Hand and foot malformations v0.68 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hand and foot malformations v0.67 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hand and foot malformations v0.66 HOXD13 Zornitza Stark Classified gene: HOXD13 as Green List (high evidence)
Hand and foot malformations v0.66 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Hand and foot malformations v0.65 HOXD13 Zornitza Stark reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: 34777468, 32509852; Phenotypes: Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300, Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hand and foot malformations v0.65 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Hand and foot malformations v0.65 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.65 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from brachydactyly to Brachydactyly, type A1, C, MIM# 615072; Brachydactyly, type A2 MIM#112600; Brachydactyly, type C, MIM# 113100; Symphalangism, proximal, 1B, MIM# 615298
Hand and foot malformations v0.64 GDF5 Zornitza Stark Classified gene: GDF5 as Green List (high evidence)
Hand and foot malformations v0.64 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.63 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type A1, C, MIM# 615072, Brachydactyly, type A2 MIM#112600, Brachydactyly, type C, MIM# 113100, Symphalangism, proximal, 1B, MIM# 615298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.277 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400 to Spinal muscular atrophy type 1, MIM#253300
Mendeliome v1.343 SMN1 Zornitza Stark Tag treatable tag was added to gene: SMN1.
Tag clinical trial tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.276 SMN1 Zornitza Stark Tag for review tag was added to gene: SMN1.
Tag treatable tag was added to gene: SMN1.
Tag clinical trial tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.276 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Cardiomyopathy_Paediatric v0.134 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Rhabdomyolysis and Metabolic Myopathy v0.90 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Mitochondrial disease v0.836 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Mendeliome v1.343 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Fatty Acid Oxidation Defects v1.8 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.276 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.276 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31372341, 32885845; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Marked gene: GALE as ready
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.23 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Intellectual disability syndromic and non-syndromic v0.4955 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Mendeliome v1.343 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.276 GALE Zornitza Stark reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Cataract v0.345 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Miscellaneous Metabolic Disorders v1.23 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Mendeliome v1.343 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.276 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Liver Failure_Paediatric v1.19 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Dystonia and Chorea v0.217 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Intellectual disability syndromic and non-syndromic v0.4955 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Mendeliome v1.343 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Cholestasis v0.236 GALT Zornitza Stark Marked gene: GALT as ready
Cholestasis v0.236 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Cholestasis v0.236 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Cataract v0.345 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Marked gene: GALT as ready
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.276 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Intellectual disability syndromic and non-syndromic v0.4955 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Mendeliome v1.343 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Marked gene: TAT as ready
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ v0.276 TAT Zornitza Stark reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Marked gene: PCCB as ready
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Hyperammonaemia v0.6 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Cardiomyopathy_Paediatric v0.134 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Stroke v1.7 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Dystonia and Chorea v0.217 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Intellectual disability syndromic and non-syndromic v0.4955 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Regression v0.505 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Mendeliome v1.343 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Genetic Epilepsy v0.1675 PCCB Zornitza Stark Tag review tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.276 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia to Propionicacidaemia, MIM#606054
Genomic newborn screening: BabyScreen+ v0.275 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.275 PCCB Zornitza Stark reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Marked gene: PCCA as ready
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Hyperammonaemia v0.6 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Stroke v1.7 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Dystonia and Chorea v0.217 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Intellectual disability syndromic and non-syndromic v0.4955 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Regression v0.505 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genetic Epilepsy v0.1675 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Mendeliome v1.343 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.275 PCCA Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionic acidaemia, MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.275 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D , MIM#264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Marked gene: QDPR as ready
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Dystonia and Chorea v0.217 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Intellectual disability syndromic and non-syndromic v0.4955 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genetic Epilepsy v0.1675 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Neurotransmitter Defects v1.5 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.275 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.217 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Intellectual disability syndromic and non-syndromic v0.4955 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Regression v0.505 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genetic Epilepsy v0.1675 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Neurotransmitter Defects v1.5 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Mendeliome v1.343 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Marked gene: PTS as ready
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.275 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4955 PAH Zornitza Stark Marked gene: PAH as ready
Intellectual disability syndromic and non-syndromic v0.4955 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4955 PAH Zornitza Stark Phenotypes for gene: PAH were changed from to Phenylketonuria, MIM#261600
Miscellaneous Metabolic Disorders v1.23 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genetic Epilepsy v0.1675 PAH Zornitza Stark Marked gene: PAH as ready
Genetic Epilepsy v0.1675 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4954 PAH Zornitza Stark Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4953 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria, MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4953 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genetic Epilepsy v0.1675 PAH Zornitza Stark Phenotypes for gene: PAH were changed from Phenylketonuria, MIM#261600 to Phenylketonuria, MIM#261600
Genetic Epilepsy v0.1674 PAH Zornitza Stark Phenotypes for gene: PAH were changed from to Phenylketonuria, MIM#261600
Mendeliome v1.343 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genetic Epilepsy v0.1673 PAH Zornitza Stark Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria, MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Marked gene: PAH as ready
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.275 PAH Zornitza Stark reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Intellectual disability syndromic and non-syndromic v0.4953 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Callosome v0.480 ETFB Zornitza Stark Marked gene: ETFB as ready
Callosome v0.480 ETFB Zornitza Stark Gene: etfb has been classified as Red List (Low Evidence).
Callosome v0.480 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM# 231680
Callosome v0.479 ETFB Zornitza Stark Classified gene: ETFB as Red List (low evidence)
Callosome v0.479 ETFB Zornitza Stark Gene: etfb has been classified as Red List (Low Evidence).
Callosome v0.478 ETFB Zornitza Stark reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Mendeliome v1.343 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Fatty Acid Oxidation Defects v1.8 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Marked gene: ETFB as ready
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark Tag for review tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.275 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Marked gene: ETFA as ready
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.275 ETFA Zornitza Stark Publications for gene: ETFA were set to
Hyperammonaemia v0.6 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Rhabdomyolysis and Metabolic Myopathy v0.90 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark changed review comment from: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates, D,L-3-hydroxybutyrate (PMID 31904027)

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark edited their review of gene: ETFA: Changed publications: 31904027
Genomic newborn screening: BabyScreen+ v0.274 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NTRK1 David Amor reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NSD1 David Amor reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR5A1 David Amor reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR3C2 David Amor reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: NR3C2 associated pseudohypoaldosteronism, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NR0B1 David Amor reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital adrenal hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 NPHS1 David Amor reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPHP4 David Amor reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPHP3 David Amor reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPHP1 David Amor reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, Nephronophthisis 1, juvenile, Senior-Loken syndrome-1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPC2 David Amor reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-pick disease, type C2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NPC1 David Amor reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-Pick disease, type C, NPC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NOTCH3 David Amor reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NOTCH2 David Amor reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hajdu-Cheney syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NOG David Amor reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2, Multiple synostoses syndrome 1, Stapes ankylosis with broad thumbs and toes, Symphalangism, proximal, 1A, Tarsal-carpal coalition syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NNT David Amor reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26548497; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NKX2-1 David Amor reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, NKX2-1-Related Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NIPBL David Amor reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NIPAL4 David Amor reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31532840; Phenotypes: Ichthyosis, congenital, autosomal recessive 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NHLRC1 David Amor reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NHEJ1 David Amor reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NGLY1 David Amor reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 1 (NGLY1-Related Congenital Disorder of Deglycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NF2 David Amor reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis type 2 (NF2); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NF1 David Amor reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31010905; Phenotypes: Neurofibromatosis type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 NEUROG3 David Amor reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36149814; Phenotypes: NEUROG3 associated syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEU1 David Amor reviewed gene: NEU1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEK8 David Amor reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEK1 David Amor reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEFL David Amor reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, Charcot-Marie-Tooth disease, type 1F, Charcot-Marie-Tooth disease, type 2E; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NEB David Amor reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive, Arthrogryposis multiplex congenita 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NDP David Amor reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 NCF2 David Amor reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF2 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NCF1 David Amor reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27178966; Phenotypes: NCF1 associated chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NBN David Amor reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NAGS David Amor reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NAGLU David Amor reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 NAGA David Amor reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO9A David Amor reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO7A David Amor reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO6 David Amor reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, Deafness, autosomal recessive 37; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO3A David Amor reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYO15A David Amor reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH9 David Amor reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MYH7 David Amor reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various myopathies and cardiomyopathies; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH3 David Amor reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) (AD), Arthrogryposis, distal, type 2B3 (Sheldon-Hall) (AD), Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (AR); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH2 David Amor reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYH14 David Amor reviewed gene: MYH14: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34681017; Phenotypes: Deafness, autosomal dominant 4A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MYCN David Amor reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MYBPC1 David Amor reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contracture syndrome 4 (AR), Arthrogryposis, distal, type 1B; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MVK David Amor reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32066461; Phenotypes: Hyper-IgD syndrome / mevalonate kinase deficiciency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 XPA Lilian Downie reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 XPC Lilian Downie edited their review of gene: XPC: Changed publications: PMID: 26255934
Genomic newborn screening: BabyScreen+ v0.274 XPC Lilian Downie reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22044607, PMID: 32918226; Phenotypes: Xeroderma pigmentosum, group C MIM#278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.155 TRAF3 Peter McNaughton gene: TRAF3 was added
gene: TRAF3 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: TRAF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF3 were set to PMID: 35960817
Phenotypes for gene: TRAF3 were set to hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome
Review for gene: TRAF3 was set to GREEN
Added comment: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.274 MUTYH David Amor reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MUTYH Polyposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MYSM1 David Amor reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MUSK David Amor reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome-9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTTP David Amor reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTRR David Amor reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MSX2 David Amor reviewed gene: MSX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis, parietal foramina; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 MRAP David Amor reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30817990; Phenotypes: Glucocorticoid deficiency 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTM1 David Amor edited their review of gene: MTM1: Changed phenotypes: X-linked myotubular myopathy
Genomic newborn screening: BabyScreen+ v0.274 MTR David Amor reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MTM1 David Amor reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.274 MPZ David Amor reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT1B (AD), Dejerine-Sottas disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPV17 David Amor reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPL David Amor reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32703794; Phenotypes: Congenital amegakaryocytic thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MPI David Amor reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, 19101627; Phenotypes: Congenital disorder of glycosylation 1b; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.274 MPDU1 David Amor reviewed gene: MPDU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MOCS2 David Amor reviewed gene: MOCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: molybdenum cofactor deficiency B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MOCS1 David Amor reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20385644, PMID: 26343839; Phenotypes: molybdenum cofactor deficiency A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 MLYCD David Amor reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malonyl-CoA decarboxylase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 ZAP70 Lilian Downie reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301777; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.274 ZEB2 Lilian Downie reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301585; Phenotypes: Mowat-Wilson syndrome MIM# 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 ZIC2 Lilian Downie reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442327; Phenotypes: holoprosencephaly MIM#603073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.274 ZIC3 Lilian Downie reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29442328, PMID: 27406248; Phenotypes: X linked heterotaxy and congenital heart defects MIM:306955; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4953 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Callosome v0.478 ETFA Zornitza Stark Marked gene: ETFA as ready
Callosome v0.478 ETFA Zornitza Stark Gene: etfa has been classified as Red List (Low Evidence).
Callosome v0.478 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680
Callosome v0.477 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.476 ETFA Zornitza Stark Classified gene: ETFA as Red List (low evidence)
Callosome v0.476 ETFA Zornitza Stark Gene: etfa has been classified as Red List (Low Evidence).
Callosome v0.475 ETFA Zornitza Stark reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Mendeliome v1.343 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Fatty Acid Oxidation Defects v1.8 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Hyperammonaemia v0.6 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Rhabdomyolysis and Metabolic Myopathy v0.90 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Hereditary Neuropathy v0.135 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Callosome v0.475 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Callosome v0.475 ETFDH Zornitza Stark Gene: etfdh has been classified as Red List (Low Evidence).
Callosome v0.475 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM#231680
Callosome v0.474 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.278 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Intellectual disability syndromic and non-syndromic v0.4953 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Callosome v0.473 ETFDH Zornitza Stark Classified gene: ETFDH as Red List (low evidence)
Callosome v0.473 ETFDH Zornitza Stark Gene: etfdh has been classified as Red List (Low Evidence).
Callosome v0.472 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Mendeliome v1.343 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.274 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from Glutaric acidemia IIC, MIM#231680 to Glutaric acidemia IIC, MIM#231680
Genomic newborn screening: BabyScreen+ v0.273 ETFDH Zornitza Stark Publications for gene: ETFDH were set to
Fatty Acid Oxidation Defects v1.8 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.272 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.272 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Liver Failure_Paediatric v1.19 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Cardiomyopathy_Paediatric v0.134 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Rhabdomyolysis and Metabolic Myopathy v0.90 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Hereditary Neuropathy v0.135 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Intellectual disability syndromic and non-syndromic v0.4953 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Mitochondrial disease v0.836 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Mendeliome v1.343 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Fatty Acid Oxidation Defects v1.8 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Marked gene: HADHB as ready
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.272 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Liver Failure_Paediatric v1.19 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Cardiomyopathy_Paediatric v0.134 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Rhabdomyolysis and Metabolic Myopathy v0.90 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Hereditary Neuropathy v0.135 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Intellectual disability syndromic and non-syndromic v0.4953 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Mitochondrial disease v0.836 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Mendeliome v1.343 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Marked gene: HADHA as ready
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.272 HADHA Zornitza Stark Publications for gene: HADHA were set to
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark changed review comment from: Well established gene-disease association.

Clinical presentation is characterised by early-onset cardiomyopathy, hypoglycaemia, neuropathy, and pigmentary retinopathy, and sudden death

Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin; to: Well established gene-disease association.

Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.

Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin
Fatty Acid Oxidation Defects v1.8 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.271 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30029694; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Hyperammonaemia v0.6 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Intellectual disability syndromic and non-syndromic v0.4953 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Regression v0.505 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Mendeliome v1.343 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ v0.271 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ v0.271 MMAB Zornitza Stark reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Hyperammonaemia v0.6 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Intellectual disability syndromic and non-syndromic v0.4953 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Regression v0.505 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Mendeliome v1.343 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Marked gene: MMAA as ready
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ v0.271 MMAA Zornitza Stark reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Marked gene: MUT as ready
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Mendeliome v1.343 MUT Zornitza Stark Tag new gene name tag was added to gene: MUT.
Cardiomyopathy_Paediatric v0.134 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Stroke v1.7 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Intellectual disability syndromic and non-syndromic v0.4953 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Regression v0.505 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Mendeliome v1.343 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.271 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, MIM# 251000; Methylmalonic aciduria, mut(0) type to Methylmalonic aciduria, mut(0) type, MIM# 251000
Genomic newborn screening: BabyScreen+ v0.270 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.270 MUT Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Liver Failure_Paediatric v1.19 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Rhabdomyolysis and Metabolic Myopathy v0.90 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Intellectual disability syndromic and non-syndromic v0.4953 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm was removed from gene: ACADM.
Tag treatable tag was added to gene: ACADM.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm tag was added to gene: ACADM.
Mendeliome v1.343 ACADM Zornitza Stark Tag acadm was removed from gene: ACADM.
Tag treatable tag was added to gene: ACADM.
Mendeliome v1.343 ACADM Zornitza Stark Tag acadm tag was added to gene: ACADM.
Fatty Acid Oxidation Defects v1.8 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Marked gene: ACADM as ready
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.270 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 ZMPSTE24 Lilian Downie reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28050601; Phenotypes: Restrictive dermopathy 1 MIM:275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie changed review comment from: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success; to: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Corneal thinning. Connective tissue disease spectrum, can have systemic features. Ocular rupture causes blindness.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie changed review comment from: Well established gene-disease association.

Severe, can cause blindness in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: no, only lifestyle modification (rupture can occur from minor trauma) and protective eyewear.; to: Well established gene-disease association.

Severe, causes blindness in the majority in early childhood but variable. Connective tissue disease spectrum. Can cause ocular rupture.

Treatment: lifestyle modification (rupture can occur from minor trauma), protective eyewear and avoidance of contact sports and activities, different surgical techniques have been tried in patients with variable success
Genomic newborn screening: BabyScreen+ v0.270 ZNF469 Lilian Downie reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31496642; Phenotypes: Brittle cornea syndrome 229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MLC1 David Amor reviewed gene: MLC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: megalencephalic leukoencephalopathy with subcortical cysts-1 (MLC1); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.121 NANS Krithika Murali gene: NANS was added
gene: NANS was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NANS were set to 34163424
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442; NANS-CDG
Review for gene: NANS was set to GREEN
Added comment: Short stature with short limbs is a feature of this condition with intrauterine growth restriction of the limbs reported.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 NBAS Krithika Murali gene: NBAS was added
gene: NBAS was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 33042920
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800
Review for gene: NBAS was set to GREEN
Added comment: Antenatal detection of limb shortening has been reported.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 NPR2 Krithika Murali gene: NPR2 was added
gene: NPR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR2 were set to 31555216; 16384845; 15146390; 22870295; 24057292; 24259409; 16384845; 24471569
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type - MIM#602875
Review for gene: NPR2 was set to GREEN
Added comment: Biallelic LoF variants associated with AMDM, a disorder characterised by severe dwarfism with disproportionate shortening of the middle and distal segments of the limbs. Shortening of the limbs may be detected antenatally.
Sources: Expert list, Literature
Genomic newborn screening: BabyScreen+ v0.270 MKS1 David Amor reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MKKS David Amor reviewed gene: MKKS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McKusick-Kaufman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 LRP4 David Amor changed review comment from: Gene-disease association: strong but <1% of all CMS (very rare)

Onset:infancy or childhood

Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful; to: Gene-disease association: strong but <1% of all CMS (very rare)

Onset:infancy or childhood

Treatment: Not clear that there is any treatment that helps, but early diagnosis may still be useful
Genomic newborn screening: BabyScreen+ v0.270 LAMB3 David Amor edited their review of gene: LAMB3: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.270 LAMB3 David Amor changed review comment from: Gene-disease association: well established

Age of onset: congenital

Treatment: non specific but early detection may be beneficial; to: Gene-disease association: well established

Age of onset: congenital

Treatment: non specific but early detection may be beneficial
Genomic newborn screening: BabyScreen+ v0.270 LAMA2 David Amor edited their review of gene: LAMA2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.270 MITF David Amor reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wardenburg syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.270 MGP David Amor reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MGAT2 David Amor reviewed gene: MGAT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CDG-IIa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MFSD8 David Amor reviewed gene: MFSD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis-7 (CLN7); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MFN2 David Amor reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MEN1 David Amor reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1 (MEN1); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.270 MEGF10 David Amor reviewed gene: MEGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MEFV David Amor reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial mediteranean fever; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MED25 David Amor reviewed gene: MED25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 MED12 David Amor reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome, intellectual disability, Lujan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.270 MECP2 David Amor reviewed gene: MECP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.270 MCPH1 David Amor reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Hyperammonaemia v0.6 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Intellectual disability syndromic and non-syndromic v0.4953 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Regression v0.505 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Mendeliome v1.343 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.270 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.270 IVD Zornitza Stark reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark changed review comment from: Well established gene-disease association.

Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities

Treatment: biotin

Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma; to: Well established gene-disease association.

Variable severity and age of presentation, predominantly with cutaneous and neurologic abnormalities. Phenotype can be difficult to predict from genotype, however note currently included in tNBS.

Treatment: biotin

Non-genetic confirmatory testing: biotinidase enzyme activity in serum or plasma
Miscellaneous Metabolic Disorders v1.23 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Intellectual disability syndromic and non-syndromic v0.4953 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Regression v0.505 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genetic Epilepsy v0.1672 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Mendeliome v1.343 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Marked gene: BTD as ready
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.270 BTD Zornitza Stark reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Intellectual disability syndromic and non-syndromic v0.4953 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Regression v0.505 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Mitochondrial disease v0.836 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genetic Epilepsy v0.1672 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Mendeliome v1.343 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Marked gene: HLCS as ready
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.270 HLCS Zornitza Stark reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Dystonia and Chorea v0.217 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Intellectual disability syndromic and non-syndromic v0.4953 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Callosome v0.472 GCDH Zornitza Stark Marked gene: GCDH as ready
Callosome v0.472 GCDH Zornitza Stark Gene: gcdh has been classified as Red List (Low Evidence).
Callosome v0.472 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from to Glutaric aciduria, type I MIM#231670
Regression v0.505 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Callosome v0.471 GCDH Zornitza Stark Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.470 GCDH Zornitza Stark Classified gene: GCDH as Red List (low evidence)
Callosome v0.470 GCDH Zornitza Stark Gene: gcdh has been classified as Red List (Low Evidence).
Callosome v0.469 GCDH Zornitza Stark reviewed gene: GCDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.343 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Marked gene: GCDH as ready
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.270 GCDH Zornitza Stark reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33069577; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Tag for review tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark changed review comment from: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.; to: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability, for review.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Marked gene: CBS as ready
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.23 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Stroke v1.7 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Intellectual disability syndromic and non-syndromic v0.4953 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Regression v0.505 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Mendeliome v1.343 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Aortopathy_Connective Tissue Disorders v1.72 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.270 CBS Zornitza Stark Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types to Homocystinuria (MIM# 236200)
Genomic newborn screening: BabyScreen+ v0.269 CBS Zornitza Stark Publications for gene: CBS were set to
Genomic newborn screening: BabyScreen+ v0.268 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Genomic newborn screening: BabyScreen+ v0.268 CBS Zornitza Stark reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27778219; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Tag treatable tag was added to gene: CFTR.
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Marked gene: CFTR as ready
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark changed review comment from: Well established gene-disease association.

Typically presents in infancy and early childhood.

Early treatment improves outcomes.

Non-genetic confirmatory testing available.; to: Well established gene-disease association.

Typically presents in infancy and early childhood.

Early treatment improves outcomes.

Non-genetic confirmatory testing available: sweat test.
Genomic newborn screening: BabyScreen+ v0.268 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark Tag for review tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v0.268 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Miscellaneous Metabolic Disorders v1.23 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Intellectual disability syndromic and non-syndromic v0.4953 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Regression v0.505 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genetic Epilepsy v0.1672 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Mendeliome v1.343 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.268 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.268 MMADHC Zornitza Stark reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4953 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Intellectual disability syndromic and non-syndromic v0.4953 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4953 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Miscellaneous Metabolic Disorders v1.23 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Stroke v1.7 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Syndromic Retinopathy v0.196 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Intellectual disability syndromic and non-syndromic v0.4952 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.344 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Callosome v0.469 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Callosome v0.469 MMACHC Zornitza Stark Gene: mmachc has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4951 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4951 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Callosome v0.469 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Callosome v0.468 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.467 MMACHC Zornitza Stark Classified gene: MMACHC as Red List (low evidence)
Callosome v0.467 MMACHC Zornitza Stark Gene: mmachc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Callosome v0.466 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Mendeliome v1.343 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.268 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Cardiomyopathy_Paediatric v0.134 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Mitochondrial disease v0.836 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Mendeliome v1.343 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Fatty Acid Oxidation Defects v1.8 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.268 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33085788, 32885845; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.134 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Rhabdomyolysis and Metabolic Myopathy v0.90 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Mitochondrial disease v0.836 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Fatty Acid Oxidation Defects v1.8 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Mendeliome v1.343 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.268 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.268 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.267 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to gNBS. Sources: Expert Review
pharmacogenomic tags were added to gene: MT-RNR1.
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Aminoglycoside sensitivity
Review for gene: MT-RNR1 was set to GREEN
Added comment: The following variants have been associated with aminoglycoside-induced deafness:
m.1555A>G
m.1005T>C
m.1095T>C

Alerts can be placed in medical records to avoid aminoglycoside administration.
Sources: Expert Review
Proteinuria v0.210 MEFV Elena Savva Classified gene: MEFV as Amber List (moderate evidence)
Proteinuria v0.210 MEFV Elena Savva Gene: mefv has been classified as Amber List (Moderate Evidence).
Proteinuria v0.209 MEFV Elena Savva gene: MEFV was added
gene: MEFV was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEFV were set to PMID: 27956278
Phenotypes for gene: MEFV were set to Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100; Neutrophilic dermatosis, acute febrile MIM#608068
Mode of pathogenicity for gene: MEFV was set to Other
Review for gene: MEFV was set to AMBER
Added comment: PMID: 27956278 - p.Met694Ile single variant in the homozygous state has been reported as enriched within individuals with renal amyloidosis and FMF.
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.266 COQ8B John Christodoulou reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ8A John Christodoulou reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ7 John Christodoulou reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COQ4 John Christodoulou reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 COLQ John Christodoulou reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN8 John Christodoulou reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN6 John Christodoulou reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN5 John Christodoulou reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CLN3 John Christodoulou reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.121 PAM16 Krithika Murali gene: PAM16 was added
gene: PAM16 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Review for gene: PAM16 was set to GREEN
Added comment: Severe prenatal short stature, narrow chest, prominent abdomen, and short limbs are reported features.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 PCNT Krithika Murali gene: PCNT was added
gene: PCNT was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 34978779
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720
Review for gene: PCNT was set to GREEN
Added comment: Primordial dwarfism with significant prenatal growth restriction and mesomelia reported.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 POC1A Krithika Murali gene: POC1A was added
gene: POC1A was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 31630891; 31630891; 30569574
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Review for gene: POC1A was set to GREEN
Added comment: Primordial dwarfism characterised by disproportionate severe short stature prenatal in onset.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 POP1 Krithika Murali gene: POP1 was added
gene: POP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POP1 were set to 21455487; 27380734; 28067412
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Review for gene: POP1 was set to GREEN
Added comment: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 ROR2 Krithika Murali gene: ROR2 was added
gene: ROR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR2 were set to 20301418; 31617258; 24932600
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive - MIM#268310
Review for gene: ROR2 was set to GREEN
Added comment: Antenatal findings of acromesomelia reported with Robinow syndrome.
Sources: Expert list, Literature
Genomic newborn screening: BabyScreen+ v0.266 CHRNG John Christodoulou reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRNE John Christodoulou reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRND John Christodoulou changed review comment from: congenital myasthenia syndrome

anti cholinesterase inhibitors partially effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary; to: congenital myasthenia syndrome

anti cholinesterase inhibitors partially effective; 3,4-DAP effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary
Genomic newborn screening: BabyScreen+ v0.266 CHRND John Christodoulou reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHRNA1 John Christodoulou reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CHAT John Christodoulou reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 CA5A John Christodoulou reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BTK John Christodoulou reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.266 BCS1L John Christodoulou reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BCKDK John Christodoulou reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 BCHE John Christodoulou reviewed gene: BCHE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 AUH John Christodoulou reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.266 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from Factor V and Factor VIII deficiency, combined to Factor V and factor VIII, combined deficiency of, MIM# 613625
Genomic newborn screening: BabyScreen+ v0.265 MCFD2 Zornitza Stark Tag for review tag was added to gene: MCFD2.
Mendeliome v1.343 MC2R Zornitza Stark Tag treatable tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Marked gene: MC2R as ready
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark Tag treatable tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ v0.265 MC2R Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.265 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from Ichthyosis follicularis, alopecia & photophobia to IFAP syndrome with or without BRESHECK syndrome MIM#308205
Genomic newborn screening: BabyScreen+ v0.264 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.264 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Marked gene: MARVELD2 as ready
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Gene: marveld2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.263 MARVELD2 Zornitza Stark Phenotypes for gene: MARVELD2 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 49, MIM# 610153
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.262 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 4, MIM# 615280
Genomic newborn screening: BabyScreen+ v0.261 MAP2K2 Zornitza Stark Classified gene: MAP2K2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.261 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.260 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279
Genomic newborn screening: BabyScreen+ v0.259 MAP2K1 Zornitza Stark Classified gene: MAP2K1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.259 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4951 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Regression v0.505 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Lysosomal Storage Disorder v1.6 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Mendeliome v1.343 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.258 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha to Mannosidosis, alpha-, types I and II, MIM# 248500
Genomic newborn screening: BabyScreen+ v0.257 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.257 MAGI2 Zornitza Stark Tag for review tag was added to gene: MAGI2.
Genomic newborn screening: BabyScreen+ v0.257 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Marked gene: MAFB as ready
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.257 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from Multicentric carpotarsal osteolysis syndrome to Multicentric carpotarsal osteolysis syndrome (MIM#166300)
Genomic newborn screening: BabyScreen+ v0.256 MAFB Zornitza Stark Publications for gene: MAFB were set to
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark Tag for review tag was added to gene: MAFB.
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark changed review comment from: Two case reports of successful treatment with cyclosporin.

For review.; to: Two case reports of successful treatment (esp of nephropathy) with cyclosporin.

For review.
Genomic newborn screening: BabyScreen+ v0.255 MAFB Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33975323; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.255 MAD2L2 Zornitza Stark Publications for gene: MAD2L2 were set to
Genomic newborn screening: BabyScreen+ v0.254 MAD2L2 Zornitza Stark Classified gene: MAD2L2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.254 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.155 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Mendeliome v1.343 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Bleeding and Platelet Disorders v1.16 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.253 LYST Zornitza Stark Tag treatable tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.253 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC to Cutis laxa, autosomal recessive, type IC (MIM# 613177)
Genomic newborn screening: BabyScreen+ v0.252 LTBP4 Zornitza Stark Classified gene: LTBP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.252 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.251 LTBP4 Zornitza Stark reviewed gene: LTBP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177); Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Marked gene: LRTOMT as ready
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Gene: lrtomt has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.251 LRTOMT Zornitza Stark Phenotypes for gene: LRTOMT were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 63, MIM# 611451
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Marked gene: LRRC6 as ready
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.250 LRRC6 Zornitza Stark Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935
Genomic newborn screening: BabyScreen+ v0.249 LRRC6 Zornitza Stark Classified gene: LRRC6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.249 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.248 LRRC6 Zornitza Stark reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.248 MCOLN1 David Amor reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.248 LRSAM1 Zornitza Stark Phenotypes for gene: LRSAM1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436
Genomic newborn screening: BabyScreen+ v0.247 LRSAM1 Zornitza Stark Mode of inheritance for gene: LRSAM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.246 LRSAM1 Zornitza Stark Classified gene: LRSAM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.246 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.245 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Genomic newborn screening: BabyScreen+ v0.244 LRPPRC Zornitza Stark Classified gene: LRPPRC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.244 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.243 LRPPRC Zornitza Stark reviewed gene: LRPPRC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.243 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770
Genomic newborn screening: BabyScreen+ v0.242 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 LRP5 Zornitza Stark Tag for review tag was added to gene: LRP5.
Genomic newborn screening: BabyScreen+ v0.241 LRP5 Zornitza Stark reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 MCFD2 David Amor changed review comment from: Gene-disease association: strong but rare.

Onset: birth

Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?; to: Gene-disease association: strong but rare.

Onset: birth

Treatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?
Genomic newborn screening: BabyScreen+ v0.241 MCFD2 David Amor reviewed gene: MCFD2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combine FV and FVIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.241 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304 to Myasthenic syndrome, congenital, 17 , MIM#616304
Genomic newborn screening: BabyScreen+ v0.240 LRP4 Zornitza Stark Tag for review tag was added to gene: LRP4.
Genomic newborn screening: BabyScreen+ v0.240 LRP4 Zornitza Stark reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.240 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome, MIM#222448
Genomic newborn screening: BabyScreen+ v0.239 LRP2 Zornitza Stark Classified gene: LRP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.239 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.238 LRP2 Zornitza Stark reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.238 LOXHD1 Zornitza Stark Phenotypes for gene: LOXHD1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 77, MIM# 613079
Genomic newborn screening: BabyScreen+ v0.237 MC2R David Amor reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial glucocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.237 LOXHD1 Zornitza Stark reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.237 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail patella syndrome to Nail-patella syndrome, MIM# 161200, MONDO:0008061
Genomic newborn screening: BabyScreen+ v0.236 LMX1B Zornitza Stark Classified gene: LMX1B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.236 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.235 LMX1B Zornitza Stark reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.235 LMOD3 Zornitza Stark Phenotypes for gene: LMOD3 were changed from Nemaline myopathy to Nemaline myopathy 10, MIM# 616165
Genomic newborn screening: BabyScreen+ v0.234 LMOD3 Zornitza Stark Classified gene: LMOD3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.234 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.233 LMOD3 Zornitza Stark reviewed gene: LMOD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Intellectual disability syndromic and non-syndromic v0.4951 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Mendeliome v1.343 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.233 LMBRD1 Zornitza Stark reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Marked gene: LITAF as ready
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.233 LITAF Zornitza Stark Phenotypes for gene: LITAF were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1C, MIM# 601098
Genomic newborn screening: BabyScreen+ v0.232 LITAF Zornitza Stark Mode of pathogenicity for gene: LITAF was changed from to None
Genomic newborn screening: BabyScreen+ v0.231 LITAF Zornitza Stark Classified gene: LITAF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.231 LITAF Zornitza Stark Gene: litaf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Marked gene: LIPA as ready
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.230 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from Wolman syndrome, MIM#278000 to Wolman syndrome, MIM#278000
Liver Failure_Paediatric v1.19 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Lysosomal Storage Disorder v1.6 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Mendeliome v1.343 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.229 LIPA Zornitza Stark Tag treatable tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.229 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.44 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Combined Immunodeficiency v1.26 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.121 SHOX Krithika Murali gene: SHOX was added
gene: SHOX was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SHOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOX were set to 29330548
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700
Review for gene: SHOX was set to GREEN
Added comment: Deletions common. Pseudoautosomal dominant inheritance as SHOX gene located on the pseudoautosomal region of X and Y chromosome.

PMID 29330548 report 5 unrelated infants with antenatally detected isolated short long bones attributable to SHOX haploinsufficiency.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 SLC10A7 Krithika Murali gene: SLC10A7 was added
gene: SLC10A7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363
Review for gene: SLC10A7 was set to GREEN
Added comment: Prenatal diagnosis of short long bones reported in addition to IUGR disproportionately impacting length.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 SLC29A3 Krithika Murali gene: SLC29A3 was added
gene: SLC29A3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 16155931
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
Review for gene: SLC29A3 was set to GREEN
Added comment: Intrauterine fractures of long bones and clavicles described.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 SMAD4 Krithika Murali gene: SMAD4 was added
gene: SMAD4 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 28406602
Phenotypes for gene: SMAD4 were set to Myhre syndrome - OMIM#139210; MONDO:0007688
Review for gene: SMAD4 was set to GREEN
Added comment: Myhre syndrome (variants involving codons 496 and 500) can be associated with IUGR and short long bones
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 SMARCAL1 Krithika Murali gene: SMARCAL1 was added
gene: SMARCAL1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 15523612; 20301550; 20301550; 17089404; 20036229
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia (MIM#242900)
Review for gene: SMARCAL1 was set to GREEN
Added comment: IUGR with disproportionately short trunk and neck described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 TBX15 Krithika Murali gene: TBX15 was added
gene: TBX15 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX15 were set to 19068278; 24039145
Phenotypes for gene: TBX15 were set to Cousin syndrome - MIM#260660
Review for gene: TBX15 was set to GREEN
Added comment: Rhizomelic/mesomelic limb shortening described and other skeletal anomalies with possibility of prenatal detection.
Sources: Literature, Expert list
Genomic newborn screening: BabyScreen+ v0.229 MBTPS2 David Amor reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: IFAP syndrome: ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.229 MARVELD2 David Amor reviewed gene: MARVELD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 MAP2K2 David Amor reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.229 MAP2K1 David Amor reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.229 MAN2B1 David Amor reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-mannosidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 MAGI2 David Amor reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27932480; Phenotypes: congenital nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.229 MAFB David Amor reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Multicentric carpotarsal osteolysis syndrome, renal failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.229 MAD2L2 David Amor reviewed gene: MAD2L2: Rating: RED; Mode of pathogenicity: None; Publications: 27500492; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.343 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Chromosome Breakage Disorders v1.10 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Bone Marrow Failure v1.21 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Growth failure v1.44 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Congenital hypothyroidism v0.34 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Pituitary hormone deficiency v0.29 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Callosome v0.466 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Callosome v0.466 LHX4 Zornitza Stark Gene: lhx4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.229 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from Severe combined immunodeficiency with sensitivity to ionizing radiation to LIG4 syndrome, MIM# 606593
Genomic newborn screening: BabyScreen+ v0.228 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.466 LHX4 Zornitza Stark Phenotypes for gene: LHX4 were changed from to Pituitary hormone deficiency, combined, 4, MIM# 262700
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark edited their review of gene: LIFR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Marked gene: LIFR as ready
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.228 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Callosome v0.465 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark edited their review of gene: LIFR: Changed phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark Classified gene: LIFR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.227 LIFR Zornitza Stark Gene: lifr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.226 LIFR Zornitza Stark reviewed gene: LIFR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.464 LHX4 Zornitza Stark Classified gene: LHX4 as Red List (low evidence)
Callosome v0.464 LHX4 Zornitza Stark Gene: lhx4 has been classified as Red List (Low Evidence).
Callosome v0.463 LHX4 Zornitza Stark reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.343 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.226 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.225 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.225 LHX4 Zornitza Stark reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v1.44 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Congenital hypothyroidism v0.34 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Pituitary hormone deficiency v0.29 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Mendeliome v1.343 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Differences of Sex Development v0.267 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.225 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Marked gene: LHFPL5 as ready
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Gene: lhfpl5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.225 LHFPL5 Zornitza Stark Phenotypes for gene: LHFPL5 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 67, MIM# 610265
Genomic newborn screening: BabyScreen+ v0.224 LHFPL5 Zornitza Stark reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 67, MIM# 610265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Marked gene: LEPR as ready
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.224 LEPR Zornitza Stark Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency to Obesity, morbid, due to leptin receptor deficiency (MIM#614963)
Genomic newborn screening: BabyScreen+ v0.223 LEPR Zornitza Stark Tag clinical trial tag was added to gene: LEPR.
Severe early-onset obesity v1.5 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Tag clinical trial tag was added to gene: LEPR.
Mendeliome v1.343 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Tag clinical trial tag was added to gene: LEPR.
Differences of Sex Development v0.267 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Tag clinical trial tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.223 LEPR Zornitza Stark Publications for gene: LEPR were set to
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark Tag treatable tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial pending.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial due to recruit.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark changed review comment from: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.; to: Treatment: setmelanotide, MC4R agonist, Phase 3 trial published in PMID 33137293. For review: check clinical availability.

Further clinical trial pending.
Genomic newborn screening: BabyScreen+ v0.222 LEPR Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 33137293; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.222 LDLR Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark changed review comment from: For review. Treatment is supportive.; to: For review. Variable severity. Treatment is supportive.
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.222 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM# 615300
Genomic newborn screening: BabyScreen+ v0.221 LARS2 Zornitza Stark Classified gene: LARS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.221 LARS2 Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.220 LARS2 Zornitza Stark reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Marked gene: LDLR as ready
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.220 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from Hypercholesterolemia to Hypercholesterolemia, familial, 1, MIM# 143890
Genomic newborn screening: BabyScreen+ v0.219 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark edited their review of gene: LDLR: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark Tag for review tag was added to gene: LDLR.
Genomic newborn screening: BabyScreen+ v0.218 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.218 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
Genomic newborn screening: BabyScreen+ v0.217 LARGE1 Zornitza Stark Classified gene: LARGE1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.217 LARGE1 Zornitza Stark Gene: large1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.216 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Marked gene: LAMTOR2 as ready
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.216 LAMTOR2 Zornitza Stark Publications for gene: LAMTOR2 were set to
Genomic newborn screening: BabyScreen+ v0.215 LAMTOR2 Zornitza Stark Classified gene: LAMTOR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.215 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.214 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from Danon disease to Danon disease, MIM# 300257
Genomic newborn screening: BabyScreen+ v0.213 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.212 LAMP2 Zornitza Stark Classified gene: LAMP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.212 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark Tag for review tag was added to gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark edited their review of gene: LAMP2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.211 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease, MIM# 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.211 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786
Genomic newborn screening: BabyScreen+ v0.210 LAMC2 Zornitza Stark Classified gene: LAMC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.210 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.209 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 3B, severe, MIM# 619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.209 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.209 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome to Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Pierson syndrome, MIM# 609049
Genomic newborn screening: BabyScreen+ v0.208 LAMB2 Zornitza Stark Classified gene: LAMB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.208 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.207 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199, Pierson syndrome, MIM# 609049; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.207 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 2B, severe, MIM# 619784
Genomic newborn screening: BabyScreen+ v0.206 LAMA3 Zornitza Stark Classified gene: LAMA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.206 LAMA3 Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.205 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 2B, severe, MIM# 619784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LAMA2 Zornitza Stark Tag for review tag was added to gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.205 LAMA2 Zornitza Stark reviewed gene: LAMA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 L1CAM Zornitza Stark Tag for review tag was added to gene: L1CAM.
Genomic newborn screening: BabyScreen+ v0.205 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.205 ATP7B John Christodoulou reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LYST David Amor reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ASL John Christodoulou reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LTBP4 David Amor reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LTBP4-related cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ARSB John Christodoulou reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRTOMT David Amor reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.205 LRSAM1 David Amor reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT2G, CMT2P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 ARG1 John Christodoulou reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRRC6 David Amor reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 AHCY John Christodoulou reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.205 LRPPRC David Amor reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Hyperammonaemia v0.6 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.205 AGL John Christodoulou reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Liver Failure_Paediatric v1.19 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Cardiomyopathy_Paediatric v0.134 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Rhabdomyolysis and Metabolic Myopathy v0.90 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Mitochondrial disease v0.836 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.205 LRP5 David Amor edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis
Mendeliome v1.343 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Fatty Acid Oxidation Defects v1.8 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.205 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from Carnitine palmitoyltransferase 2 deficiency to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Genomic newborn screening: BabyScreen+ v0.204 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Genomic newborn screening: BabyScreen+ v0.203 LRP5 David Amor reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.203 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Mitochondrial disease v0.836 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.203 ACAD9 John Christodoulou reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.203 LRP4 David Amor reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myaesthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.343 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Fatty Acid Oxidation Defects v1.8 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Marked gene: CPT1A as ready
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Gene: cpt1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.203 CPT1A Zornitza Stark Publications for gene: CPT1A were set to
Genomic newborn screening: BabyScreen+ v0.202 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.202 CPT1A Zornitza Stark reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.202 LRP2 David Amor reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hyperammonaemia v0.6 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hereditary Neuropathy v0.135 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Intellectual disability syndromic and non-syndromic v0.4951 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.202 LOXHD1 David Amor reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: non-syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.505 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genetic Epilepsy v0.1672 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Mendeliome v1.343 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.202 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease to Maple syrup urine disease, type Ib, MIM# 248600
Genomic newborn screening: BabyScreen+ v0.201 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.201 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.0 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Hyperammonaemia v0.6 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Intellectual disability syndromic and non-syndromic v0.4951 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Regression v0.505 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genetic Epilepsy v0.1672 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Mendeliome v1.343 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.201 LMX1B David Amor reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.201 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease to Maple syrup urine disease, type Ia, MIM# 248600
Genomic newborn screening: BabyScreen+ v0.200 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.200 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4951 DBT Zornitza Stark Marked gene: DBT as ready
Intellectual disability syndromic and non-syndromic v0.4951 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Aminoacidopathy v1.0 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Hyperammonaemia v0.6 DBT Zornitza Stark Marked gene: DBT as ready
Hyperammonaemia v0.6 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Hyperammonaemia v0.6 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Regression v0.505 DBT Zornitza Stark Marked gene: DBT as ready
Regression v0.505 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Regression v0.505 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Intellectual disability syndromic and non-syndromic v0.4951 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Genomic newborn screening: BabyScreen+ v0.200 LMOD3 David Amor edited their review of gene: LMOD3: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4950 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 LMOD3 David Amor reviewed gene: LMOD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4949 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Intellectual disability syndromic and non-syndromic v0.4949 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 DBT Zornitza Stark Marked gene: DBT as ready
Genetic Epilepsy v0.1672 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Regression v0.504 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1672 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.503 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Regression v0.503 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1671 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Genetic Epilepsy v0.1670 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Marked gene: DBT as ready
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Mendeliome v1.343 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.200 LMBRD1 David Amor reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined methylmalonic acidemia and homocystinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.200 LITAF David Amor reviewed gene: LITAF: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: CMT1C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aminoacidopathy v1.0 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Hyperammonaemia v0.6 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Leukodystrophy v0.278 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Intellectual disability syndromic and non-syndromic v0.4949 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Mitochondrial disease v0.836 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Genetic Epilepsy v0.1670 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Mendeliome v1.343 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Fatty Acid Oxidation Defects v1.8 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Genomic newborn screening: BabyScreen+ v0.200 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Aminoacidopathy v1.0 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Mitochondrial disease v0.836 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Mendeliome v1.343 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Fatty Acid Oxidation Defects v1.8 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Miscellaneous Metabolic Disorders v1.23 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Stroke v1.7 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Intellectual disability syndromic and non-syndromic v0.4949 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Hyperammonaemia v0.6 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Hand and foot malformations v0.63 GDF5 Sue White Classified gene: GDF5 as Red List (low evidence)
Hand and foot malformations v0.63 GDF5 Sue White Gene: gdf5 has been classified as Red List (Low Evidence).
Mendeliome v1.343 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.200 LIPA David Amor reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolman disease, cholesterol ester storage disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.62 HOXD13 Sue White gene: HOXD13 was added
gene: HOXD13 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD13 were set to 12649808; 17236141
Phenotypes for gene: HOXD13 were set to brachydactyly
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.200 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia, MIM#215700 to Citrullinaemia, MIM#215700
Genomic newborn screening: BabyScreen+ v0.199 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinaemia MIM#215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.61 GDF5 Sue White Classified gene: GDF5 as Green List (high evidence)
Hand and foot malformations v0.61 GDF5 Sue White Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.60 GDF5 Sue White gene: GDF5 was added
gene: GDF5 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF5 were set to 9288091; 16127465; 12567410
Phenotypes for gene: GDF5 were set to brachydactyly
Penetrance for gene: GDF5 were set to unknown
Genomic newborn screening: BabyScreen+ v0.199 LIG4 David Amor reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, immunodeficiency, developmental delay, growth delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.199 HMGCL Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LIFR David Amor reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LHX4 David Amor reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: combined pituitary hormone deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.236 LSR Elena Savva reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217, 15265030; Phenotypes: transient neonatal cholestasis, intellectual disability, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LHX3 David Amor reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.199 LHFPL5 David Amor reviewed gene: LHFPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LEPR David Amor reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe early onset obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LDLR David Amor reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: familial hypercholesterolemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LARS2 David Amor reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, sensorineural hearing loss, ovarian dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LARGE1 David Amor reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wlaker-Warburg syndrome, muscular dystrophy-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMTOR2 David Amor reviewed gene: LAMTOR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17195838; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMP2 David Amor reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease - cardiomyopathy, retinal disease, cognitive dysfunction; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.199 LAMC2 David Amor reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMB3 David Amor reviewed gene: LAMB3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMB2 David Amor reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome - congenital nephrotic syndrome and eye abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMA3 David Amor reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LAMA2 David Amor reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LAMA2 muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 L1CAM David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosum agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.199 L1CAM David Amor Deleted their review
Genomic newborn screening: BabyScreen+ v0.199 L1CAM David Amor reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, X-linked corpus callosu agenesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.199 SMN1 John Christodoulou reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACADVL John Christodoulou reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALE John Christodoulou reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALK1 John Christodoulou reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GALT John Christodoulou commented on gene: GALT: part of newborn screening programs nationally (but not in Victoria)
Genomic newborn screening: BabyScreen+ v0.199 GALT John Christodoulou reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 TAT John Christodoulou reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCCB John Christodoulou reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCCA John Christodoulou reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PCBD1 John Christodoulou reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 QDPR John Christodoulou reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PTS John Christodoulou reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 PAH John Christodoulou reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFB John Christodoulou reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFA John Christodoulou reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ETFDH John Christodoulou reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HADHB John Christodoulou reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HADHA John Christodoulou reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMAB John Christodoulou reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMAA John Christodoulou reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MUT John Christodoulou reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACADM John Christodoulou reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 IVD John Christodoulou reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BTD John Christodoulou reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HLCS John Christodoulou reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 GCDH John Christodoulou reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CBS John Christodoulou reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CFTR John Christodoulou reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CYP21A2 John Christodoulou reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 LMBRD1 John Christodoulou reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMADHC John Christodoulou reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 MMACHC John Christodoulou reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 SLC25A20 John Christodoulou reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 SLC22A5 John Christodoulou reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CPT2 John Christodoulou reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 CPT1A John Christodoulou reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BCKDHB John Christodoulou reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 BCKDHA John Christodoulou reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 DBT John Christodoulou reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ASS1 John Christodoulou reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 ACAT1 John Christodoulou reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.199 HMGCL John Christodoulou reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Marked gene: BRAF as ready
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Classified gene: BRAF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.198 BRAF Zornitza Stark Gene: braf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.197 BRAF Zornitza Stark reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.119 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Mendeliome v1.343 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.197 BLNK Zornitza Stark Tag treatable tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.197 BLNK Zornitza Stark reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 10583958, 32194234, 25893637; Phenotypes: Agammaglobulinaemia 4, MIM# 613502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.197 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive to Centronuclear myopathy 2, MIM# 255200
Genomic newborn screening: BabyScreen+ v0.196 BIN1 Zornitza Stark Classified gene: BIN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.196 BIN1 Zornitza Stark Gene: bin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.195 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.195 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from Congenital spinal muscular atrophy to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Neurodevelopmental disorder (MONDO#0700092), BICD2-related
Genomic newborn screening: BabyScreen+ v0.194 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Genomic newborn screening: BabyScreen+ v0.193 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.192 BICD2 Zornitza Stark Classified gene: BICD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.192 BICD2 Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.191 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393, 35896821; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291, Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.191 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis & hearing loss, MIM#267300 to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.190 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300
Genomic newborn screening: BabyScreen+ v0.189 ATP8B1 Zornitza Stark Classified gene: ATP8B1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.189 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.188 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.21 TYMS Zornitza Stark Tag digenic tag was added to gene: TYMS.
Mendeliome v1.343 TYMS Zornitza Stark Tag digenic tag was added to gene: TYMS.
Mendeliome v1.343 TYMS Zornitza Stark Phenotypes for gene: TYMS were changed from Dyskeratosis congenita MONDO:0015780 to Dyskeratosis congenita, digenic, MIM#620040
Mendeliome v1.342 TYMS Zornitza Stark edited their review of gene: TYMS: Changed phenotypes: Dyskeratosis congenita, digenic, MIM#620040
Bone Marrow Failure v1.21 TYMS Zornitza Stark Phenotypes for gene: TYMS were changed from Dyskeratosis congenita MONDO:0015780 to Dyskeratosis congenita, digenic, MIM#620040
Bone Marrow Failure v1.20 TYMS Zornitza Stark edited their review of gene: TYMS: Changed phenotypes: Dyskeratosis congenita, digenic, MIM#620040
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.; to: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.

However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed publications: 32894695
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Tag for review tag was added to gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.188 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.187 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.187 ATP6V0A4 Zornitza Stark Marked gene: ATP6V0A4 as ready
Genomic newborn screening: BabyScreen+ v0.187 ATP6V0A4 Zornitza Stark Gene: atp6v0a4 has been classified as Green List (High Evidence).
Fetal anomalies v1.70 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Hand and foot malformations v0.58 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.210 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Skeletal dysplasia v0.209 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Skeletal dysplasia v0.209 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Clinical trial with palovarotene.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Mendeliome v1.342 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Mendeliome v1.342 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Clinical trial with palovarotene

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.187 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva to Fibrodysplasia ossificans progressiva, MIM# 135100
Genomic newborn screening: BabyScreen+ v0.186 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Genomic newborn screening: BabyScreen+ v0.185 ACVR1 Zornitza Stark Classified gene: ACVR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.185 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.184 ACVR1 Zornitza Stark Tag for review tag was added to gene: ACVR1.
Tag clinical trial tag was added to gene: ACVR1.
Genomic newborn screening: BabyScreen+ v0.184 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: None; Publications: 16642017, 29089047, 35384641; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.184 ACOX1 Zornitza Stark Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960
Genomic newborn screening: BabyScreen+ v0.183 ACOX1 Zornitza Stark Publications for gene: ACOX1 were set to
Genomic newborn screening: BabyScreen+ v0.182 ACOX1 Zornitza Stark Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.181 ACOX1 Zornitza Stark Classified gene: ACOX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.181 ACOX1 Zornitza Stark Gene: acox1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.180 ACOX1 Zornitza Stark reviewed gene: ACOX1: Rating: RED; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cholestasis v0.236 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Cholestasis v0.236 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Cholestasis v0.236 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM# 229600
Cholestasis v0.235 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.234 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.234 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Liver Failure_Paediatric v1.19 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Mendeliome v1.342 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Mendeliome v1.342 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.180 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from Fructose intolerance, MIM#229600 to Fructose intolerance, hereditary, MIM# 229600
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark edited their review of gene: ALDOB: Changed phenotypes: Fructose intolerance, hereditary, MIM# 229600
Genomic newborn screening: BabyScreen+ v0.179 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.179 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Deafness, childhood onset to Deafness, autosomal dominant 82, MIM# 619804
Genomic newborn screening: BabyScreen+ v0.178 ATP2B2 Zornitza Stark Classified gene: ATP2B2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.178 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.177 ATP2B2 Zornitza Stark Tag for review tag was added to gene: ATP2B2.
Genomic newborn screening: BabyScreen+ v0.177 ATP2B2 Zornitza Stark reviewed gene: ATP2B2: Rating: RED; Mode of pathogenicity: None; Publications: 30535804; Phenotypes: Deafness, autosomal dominant 82, MIM# 619804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.177 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Hemiplegic migraine to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605
Genomic newborn screening: BabyScreen+ v0.176 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to
Genomic newborn screening: BabyScreen+ v0.175 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.174 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.174 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.173 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 31608932, 33880529
Genomic newborn screening: BabyScreen+ v0.173 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v1.9 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Congenital Myasthenia v1.8 ALG14 Zornitza Stark Publications for gene: ALG14 were set to 23404334; 28733338
Congenital Myasthenia v1.7 ALG14 Zornitza Stark Classified gene: ALG14 as Amber List (moderate evidence)
Congenital Myasthenia v1.7 ALG14 Zornitza Stark Gene: alg14 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.6 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.173 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.172 ALG9 Zornitza Stark Classified gene: ALG9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.172 ALG9 Zornitza Stark Gene: alg9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.171 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: RED; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.171 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih to Congenital disorder of glycosylation, type Ih, MIM# 608104
Genomic newborn screening: BabyScreen+ v0.170 ALG8 Zornitza Stark Classified gene: ALG8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.170 ALG8 Zornitza Stark Gene: alg8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.169 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.169 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic to Congenital disorder of glycosylation, type Ic (MIM#603147)
Genomic newborn screening: BabyScreen+ v0.168 ALG6 Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.168 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.167 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.167 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, MIM# 601110
Genomic newborn screening: BabyScreen+ v0.166 ALG3 Zornitza Stark Classified gene: ALG3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.165 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Id 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.165 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig to Congenital disorder of glycosylation, type Ig, MIM# 607143
Genomic newborn screening: BabyScreen+ v0.164 ALG12 Zornitza Stark Classified gene: ALG12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.164 ALG12 Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.163 ALG12 Zornitza Stark reviewed gene: ALG12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.163 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik to Congenital disorder of glycosylation, type Ik 608540
Genomic newborn screening: BabyScreen+ v0.162 ALG1 Zornitza Stark Classified gene: ALG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.162 ALG1 Zornitza Stark Gene: alg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.161 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.70 ATP7A Zornitza Stark changed review comment from: Well established gene-disease association, IUGR is a feature.; to: Well established gene-disease association, IUGR is a feature.

Treatment: subcutaneous injections of copper histidine or copper chloride

ClinGen has assessed as moderate evidence for actionability.

Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms.
Fetal anomalies v1.70 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Hair disorders v0.62 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Hair disorders v0.62 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Hair disorders v0.62 ATP7A Zornitza Stark Publications for gene: ATP7A were set to 31332722
Hair disorders v0.61 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Leukodystrophy v0.278 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Intellectual disability syndromic and non-syndromic v0.4949 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Intellectual disability syndromic and non-syndromic v0.4949 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4949 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Menkes disease MIM#309400
Intellectual disability syndromic and non-syndromic v0.4948 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females